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KIT

Interpretations

By Variant(s)

KIT D419del

KIT K642E

KIT N655K

KIT V560D

KIT Y823D

KIT A829P

KIT D816A

KIT D816F

KIT D816H

KIT D816I

KIT D816V

KIT D816Y

KIT D820Y

KIT L576P

KIT N822K

KIT T417_D419delinsY

KIT T670I

KIT T670S

KIT V559A

KIT V559I

KIT V560G

KIT V654A

KIT W557R

KIT Y553C

KIT M541L

KIT E554K

KIT exon(s) 11 any

KIT exon(s) 17 any

KIT codon(s) 560 any

KIT codon(s) 822 any

KIT exon(s) 9 deletion

KIT exon(s) 9 insertion

KIT exon(s) 8 missense

KIT exon(s) 9 missense

KIT exon(s) 10 missense

KIT S501_A502insCL

KIT Y503_F504insSA

KIT D579del

KIT D820A

KIT D820E

KIT D820G

KIT E554_I571del

KIT E554_K558del

KIT T417_D419delinsRG

KIT T417_D419delinsI

KIT E554_V559del

KIT exon(s) 9 any

KIT F522C

KIT H697Y

KIT I563_L576del

KIT I653T

KIT K550_W557del

KIT K558_E562del

KIT K558_V559del

KIT K558N

KIT M552_W557del

KIT N505I

KIT N564_Y578del

KIT N822Y

KIT N822H

KIT N822I

KIT P551_M552del

KIT P573_D579del

KIT P577_D579del

KIT P577_W582delinsPYD

KIT P838L

KIT Q556_K558del

KIT V530I

KIT V555_L576del

KIT V555_V559del

KIT V559_V560del

KIT V559D

KIT V559G

KIT V559C

KIT V559del

KIT V569_L576del

KIT W557_K558del

KIT W557G

KIT Y553_K558del

KIT Y553N

KIT Y570H

KIT Y578C

KIT copy number gain

KIT copy number loss

KIT any mutation

KIT D45N

KIT G565V

By Tumor

  • Acinar Cell Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Acinic Cell Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Acute Myeloid Leukemia
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Adenocarcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Adenoid Cystic Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Adenosarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Ameloblastic Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Anaplastic Large Cell Lymphoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Angioimmunoblastic T-Cell Lymphoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Angiomatoid Fibrous Histiocytoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Angiomatosis
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Angiomyolipoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Angiosarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Astrocytoma, Anaplastic
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Atypical Chronic Myeloid Leukemia
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • B Lymphoblastic Leukemia/Lymphoma
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Basal Cell Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Burkitt Lymphoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Carcinoid Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Carcinosarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Cholangiocarcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Chondrosarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Chordoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Choriocarcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Chromophobe Renal Cell Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Chronic Lymphocytic Leukemia
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Chronic Myeloid Leukemia
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Chronic Myelomonocytic Leukemia
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Chronic Neutrophilic Leukemia
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Classical Hodgkin Lymphoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Clear Cell Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Clear Cell Renal Cell Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Craniopharyngioma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Dermatofibrosarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Desmoplastic Small Round Cell Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Diffuse Large B Cell Lymphoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Ductal Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Ependymoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Essential Thrombocythemia
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Ewing Sarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Fibromatosis
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Follicular Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Follicular Lymphoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Gastrointestinal Stromal Tumor
    • KIT M541L
    • KIT E554K
    • KIT V560D, KIT exon(s) 11 any
    • KIT exon(s) 9 insertion
    • KIT V654A
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
    • KIT W557_K558del
    • KIT E554_I571del
    • KIT D816F, KIT D816V, KIT D816Y
    • KIT D419del
    • KIT T417_D419delinsRG, KIT T417_D419delinsI
    • KIT I653T
    • KIT H697Y
    • KIT exon(s) 9 any
    • KIT K550_W557del
    • KIT F522C
    • KIT P573_D579del
    • KIT N822I
    • KIT N822Y, KIT N822H
    • KIT P551_M552del
    • KIT K642E
    • KIT K558N
    • KIT L576P
    • KIT M552_W557del
    • KIT K558_E562del
    • KIT N564_Y578del
    • KIT N822K
    • KIT I563_L576del
    • KIT V555_V559del
    • KIT V555_L576del
    • KIT V530I
    • KIT Q556_K558del
    • KIT P838L
    • KIT P577_W582delinsPYD
    • KIT P577_D579del
    • KIT N505I
    • KIT K558_V559del
    • KIT E554_K558del
    • KIT D820Y, KIT D820G
    • KIT V560D
    • KIT V559D
    • KIT Y578C
    • KIT Y570H
    • KIT Y553_K558del, KIT Y553N
    • KIT W557R, KIT W557G
    • KIT V569_L576del
    • KIT V560G
    • KIT V559del
    • KIT V559G
    • KIT V559C
    • KIT V559_V560del
    • KIT D579del
    • KIT E554_V559del
  • Germ Cell Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Giant Cell Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Glioblastoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
    • KIT D45N
  • Glomus Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Granular Cell Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Hairy Cell Leukemia
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Hemangioendothelioma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Hepatocellular Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Histiocytic and Dendritic Cell Neoplasms
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Invasive Ductal Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Kaposi Sarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Langerhans Cell Histiocytosis
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Leiomyoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Leiomyosarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Lipoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Liposarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Lobular Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Lymphoplasmacytic Lymphoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Malignant Mullerian Mixed Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Mantle Cell Lymphoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Marginal Zone B Cell Lymphoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Mast Cell Neoplasm
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • MDS with Ring Sideroblasts
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Medullary Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Medulloblastoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Melanoma
    • KIT N822K, KIT exon(s) 17 any
    • KIT V559A
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
    • KIT L576P
    • KIT K642E
  • Meningioma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Merkel Cell Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Mesothelioma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Mucinous Tumors of Appendix
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Mucinous Tumors of Ovary
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Mucoepidermoid Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Myelodysplastic Syndrome
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Myeloproliferative Neoplasm
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Myxofibrosarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Nasopharyngeal Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Neuroblastoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Neuroendocrine Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Neuroendocrine Neoplasm
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • NK Cell Lymphoproliferative Disorder
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • NLPHL
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Non-Small Cell Lung Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Oligodendroglioma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Osteosarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Papillary Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Papillary Renal Cell Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Peripheral T Cell Lymphoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Pheochromocytoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Plasma Cell Disorder
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Polycythemia Vera
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Post-Transplant Lymphoproliferative Disorder
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Primary Myelofibrosis
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Primitive Neuroectodermal Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Renal Cell Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Reninoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Retinoblastoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Rhabdomyosarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Sarcoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Schwannoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Serous Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Sex Cord Stromal Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Small Cell Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Solid Pseudopapillary Tumor of Pancreas
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Spindle Cell Neoplasm
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Squamous Cell Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • T Cell Lymphoproliferative Disorder
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • T Lymphoblastic Leukemia/Lymphoma
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • T-Cell LGL Leukemia
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Thymic Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
    • KIT D820Y, KIT D820A, KIT D820E, KIT D820G
    • KIT H697Y
    • KIT P551_M552del
    • KIT K642E
    • KIT L576P
    • KIT V555_L576del
    • KIT P577_D579del
    • KIT N505I
    • KIT exon(s) 11 any
    • KIT E554_K558del
    • KIT K550_W557del
    • KIT W557_K558del
    • KIT V654A
    • KIT V559D
    • KIT D579del
    • KIT exon(s) 9 any
  • Thymoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Urothelial Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Tumors of Peripheral Nerves
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Unknown
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Wilms Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Ependymoma, Anaplastic
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Astrocytoma, Pilocytic
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Ganglioglioma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Neuroepithelial Neoplasm, NOS
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Pleomorphic Carcinoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Solitary Fibrous Tumor
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Neuroepithelial neoplasm, high grade
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Leukocytosis
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Thrombocytosis
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Monocytosis
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Cytopenia
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Other Acute Leukemia
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Astrocytoma, NOS
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Acute Leukemia of Unspecified Cell Type
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Anemia, Unspecified
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Astrocytoma, Diffusely Infiltrating
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Diffuse Midline Glioma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Infiltrating Glioma, NOS
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Intraductal Papillary Mucinous Neoplasm (IPMN)
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Leukopenia
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Lymphadenopathy
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Lymphocytosis, Symptomatic
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Monoclonal Gammopathy
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Mucinous or Serous Cystic Neoplasms of Pancreas
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Mycosis Fungoides, Unspecified Site
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Oligodendroglioma, Anaplastic
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Pleomorphic Xanthoastrocytoma
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Rash and Other Nonspecific Skin Eruption
    • KIT copy number gain, KIT copy number loss
    • KIT any mutation
  • Thrombocytopenia, Unspecified
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Eosinophilia
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Myelodysplastic/Myeloproliferative Neoplasm
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Myeloid Neoplasm
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Polycythemia
    • KIT D816V, KIT exon(s) 11 any, KIT exon(s) 17 any, KIT exon(s) 8 missense, KIT exon(s) 9 missense, KIT exon(s) 10 missense, KIT any mutation
  • Information
  • View History
  • Suggested Revisions
KIT D45N
GeneKIT
Variantmissense
Amino Acid ChangeD45N
Transcript ID (GRCh37/hg19)ENST00000288135
Codon(s)45
Exon(s)2
Genomic Coordinates (GRCh37/hg19)4:55561743-55561743
COSMIC ID4604281
Germline/Somatic?Somatic
Pertinent Negative In
TumorTissue
See All Pertinent Negatives

Interpretations

IDTumorTissueVariantsTierInterpretation
2260
Glioblastoma
Brain
KIT D45N
3KIT, also known as proto-oncogene c-Kit or tyrosine-protein kinase Kit or CD117, is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of tissue types. Signaling through CD117 plays a role in cell survival, proliferation, and differentiation. KIT is found in approximately 1% of glioblastomas. The KIT D45N variant is in the extracellular domain, however, its effect on protein function is unknown. The clinical significance of KIT in glioblastoma and the clinicopathologic effect of this variant remains to be further elucidated.

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