Variant (rsID / SNP)
rs36053993
rs36053993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUTYH. Location: chromosome 1, position 45,797,228. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:45797228
- Cytoband
- 1p34.1
- HGVS
- NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
- Allele change
- Silent
Associated conditions / phenotypes
Familial adenomatous polyposis 2|Endometrial cancer|Hereditary cancer-predisposing syndrome|Carcinoma of colon|Familial adenomatous polyposis 2|Neoplasm of stomach|Small intestine carcinoid|Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas|Pilomatrixoma|Familial adenomatous polyposis 2|Neoplasm of stomach|Ovarian carcinoma|Breast carcinoma|Colon cancer|Familial colorectal cancer|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.