KIT:V560D V560D
| Gene | KIT |
| Variant | missense |
| Amino Acid Change | V560D |
| DNA Change (Coding Nucleotide) | 1679T>A |
| Transcript ID (GRCh37/hg19) | ENST00000288135 |
| Codon(s) | 560 |
| Exon(s) | 11 |
| Genomic Coordinates (GRCh37/hg19) | 4:55593613-55593613 |
| COSMIC ID | 1257 |
| Germline/Somatic? | Somatic |
Pertinent Negative In
| Tumor Type | Primary Site |
|---|
Interpretations
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Interpretation
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.
Last updated: 2016-10-11 21:39:37 UTC
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