Variant (rsID / SNP)
rs34612342
rs34612342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,798,475. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MUTYHPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:45798475
- Cytoband
- 1p34.1
- HGVS
- NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
- Allele change
- Silent
Associated conditions / phenotypes
Familial adenomatous polyposis 2|Endometrial carcinoma|Hereditary cancer-predisposing syndrome|Carcinoma of colon|Pilomatrixoma|Familial adenomatous polyposis 2|Neoplasm of stomach|Gastric cancer|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.