Variant (rsID / SNP)
rs781222233
rs781222233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,798,559. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MUTYHPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 1:45798559
- Cytoband
- 1p34.1
- HGVS
- NM_001048174.2(MUTYH):c.420+19_420+31del
Associated conditions / phenotypes
Familial adenomatous polyposis 2|Hereditary cancer-predisposing syndrome|Colonic neoplasm
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.