Variant (rsID / SNP)
rs200640585
rs200640585 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,031,649. Clinical significance in the table: Pathogenic.
Reference-table entries
PMS2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:6031649
- Cytoband
- 7p22.1
- HGVS
- NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
- Allele change
- Nonsense_R124X
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, non-polyposis|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Turcot syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.