Variant (rsID / SNP)
rs587780088
rs587780088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,800,165. Clinical significance in the table: Pathogenic.
Reference-table entries
MUTYHPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:45800165
- Cytoband
- 1p34.1
- HGVS
- NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)
- Allele change
- Silent
Associated conditions / phenotypes
Carcinoma of colon|Familial adenomatous polyposis 2|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2|Pilomatrixoma|Neoplasm of stomach
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.