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Variant (rsID / SNP)

rs143388949

KIT

rs143388949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIT. Location: chromosome 4, position 55,573,290. 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
4:55573290
Cytoband
4q12
HGVS
NM_000222.3(KIT):c.952A>G (p.Met318Val)
Allele change
Missense_M318V

Associated conditions / phenotypes

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

Public references

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