Gene entry
KIT
KIT proto-oncogene, receptor tyrosine kinase
- Chromosome
- 4
- Cytoband
- 4q12
- Variants (rsID)
- 31
KIT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q12). Its official name is “KIT proto-oncogene, receptor tyrosine kinase”. The reference table lists 31 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs72549294Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor
- rs115585711Conflicting interpretationssingle nucleotide variantPartial albinism|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor
- rs138585275Conflicting interpretationssingle nucleotide variantGastrointestinal stromal tumor, familial|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|Mastocytosis|Partial albinism
- rs140909964Conflicting interpretationssingle nucleotide variantMastocytosis|Partial albinism|Gastrointestinal stromal tumor
- rs143388949Conflicting interpretationssingle nucleotide variantGastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome|Mastocytosis|Partial albinism
- rs200945282Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|Mastocytosis|Partial albinism
- rs202052259Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|Mastocytosis|Partial albinism
- rs369450271Conflicting interpretationssingle nucleotide variantGastrointestinal stromal tumor|Mastocytosis|Partial albinism
- rs745967881Conflicting interpretationssingle nucleotide variantGastrointestinal stromal tumor|Partial albinism|Mastocytosis|Hereditary cancer-predisposing syndrome
- rs121913506Pathogenicsingle nucleotide variantAcute myeloid leukemia|Gastrointestinal stromal tumor|Melanoma|Hematologic neoplasm|MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
- rs121913512Pathogenicsingle nucleotide variantGastrointestinal stromal tumor, familial|Gastrointestinal stromal tumor|Melanoma|Malignant melanoma of skin|Gastric adenocarcinoma|Hematologic neoplasm
- rs763308199Uncertain significancesingle nucleotide variantThymoma|Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.