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Variant (rsID / SNP)

rs140342925

MUTYH

rs140342925 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,798,117. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MUTYHPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:45798117
Cytoband
1p34.1
HGVS
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
Allele change
Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2|Pilomatrixoma|Neoplasm of stomach|Familial adenomatous polyposis 2|Breast carcinoma|Carcinoma of colon

Public references

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