Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200945282

KIT

rs200945282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIT. Location: chromosome 4, position 55,593,628. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KITConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:55593628
Cytoband
4q12
HGVS
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)
Allele change
Missense_G565V

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|Mastocytosis|Partial albinism

Public references

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