Variant (rsID / SNP)
rs121913512
rs121913512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIT. Location: chromosome 4, position 55,594,221. Clinical significance in the table: Pathogenic.
Reference-table entries
KITPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:55594221
- Cytoband
- 4q12
- HGVS
- NM_000222.3(KIT):c.1924A>G (p.Lys642Glu)
- Allele change
- Missense_K642E
Associated conditions / phenotypes
Gastrointestinal stromal tumor, familial|Gastrointestinal stromal tumor|Melanoma|Malignant melanoma of skin|Gastric adenocarcinoma|Hematologic neoplasm
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.