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Variant (rsID / SNP)

rs138585275

KIT

rs138585275 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIT. Location: chromosome 4, position 55,569,954. 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
4:55569954
Cytoband
4q12
HGVS
NM_000222.3(KIT):c.821C>T (p.Thr274Met)
Allele change
Missense_T274M

Associated conditions / phenotypes

Gastrointestinal stromal tumor, familial|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.