Variant (rsID / SNP)

rs140909964

rs140909964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIT. Location: chromosome 4, position 55,524,168. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KITConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:55524168
Cytoband: 4q12
HGVS: NM_000222.3(KIT):c.-14T>A
Allele change: Silent

Associated conditions / phenotypes

Mastocytosis|Partial albinism|Gastrointestinal stromal tumor

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.