Variant (rsID / SNP)

rs763308199

rs763308199 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIT. Location: chromosome 4, position 55,595,599. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KITUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:55595599
Cytoband: 4q12
HGVS: NM_000222.3(KIT):c.2089C>T (p.His697Tyr)
Allele change: Missense_H697Y

Associated conditions / phenotypes

Thymoma|Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.