Variant (rsID / SNP)
rs121913506
rs121913506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIT. Location: chromosome 4, position 55,599,320. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
KITPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:55599320
- Cytoband
- 4q12
- HGVS
- NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr)
- Allele change
- Missense_D816H
Associated conditions / phenotypes
Acute myeloid leukemia|Gastrointestinal stromal tumor|Melanoma|Hematologic neoplasm|MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.