Gene | KIT |
Variant | missense |
Amino Acid Change | V560D |
DNA Change (Coding Nucleotide) | 1679T>A |
Transcript ID (GRCh37/hg19) | ENST00000288135 |
Codon | 560 |
Exon | 11 |
Genomic Coordinates (GRCh37/hg19) | 4:55593613-55593613 |
COSMIC ID | 1257 |
Germline/Somatic? | Somatic |
Tumor Type | Primary Site |
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KIT mutations occur in approximately 80% of patients with gastrointestinal stromal tumors. The major region of KIT mutation in GIST is within exon 11, occurring in about 65% of patients. KIT exon 11 mutations are activating mutations and are typically sensitive to treatment with Imatinib.