Variant (rsID / SNP)

rs200495564

rs200495564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,798,118. Clinical significance in the table: Pathogenic.

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Reference-table entries

MUTYHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:45798118
Cytoband: 1p34.1
HGVS: NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
Allele change: Silent

Associated conditions / phenotypes

Familial adenomatous polyposis 2|Hereditary cancer-predisposing syndrome|Familial colorectal cancer

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.