Variant (rsID / SNP)

rs762307622

rs762307622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,798,627. 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: 1:45798627
Cytoband: 1p34.1
HGVS: NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
Allele change: Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2|Carcinoma of colon

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.