Variant (rsID / SNP)
rs201451115
rs201451115 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,026,457. Clinical significance in the table: Pathogenic.
Reference-table entries
PMS2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:6026457
- Cytoband
- 7p22.1
- HGVS
- NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
- Allele change
- Nonsense_K456X
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colon cancer|Mismatch repair cancer syndrome 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.