Variant (rsID / SNP)

rs369450271

rs369450271 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIT. Location: chromosome 4, position 55,603,455. 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: 4:55603455
Cytoband: 4q12
HGVS: NM_000222.3(KIT):c.2802+9A>G
Allele change: Silent

Associated conditions / phenotypes

Gastrointestinal stromal tumor|Mastocytosis|Partial albinism

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.