Variant (rsID / SNP)

rs864621967

rs864621967 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,796,848. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MUTYHLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 1:45796848
Cytoband: 1p34.1
HGVS: NM_001048174.2(MUTYH):c.1392_1392+6del

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2

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.