Variant (rsID / SNP)
rs63751422
rs63751422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,026,469. Clinical significance in the table: Pathogenic.
Reference-table entries
PMS2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:6026469
- Cytoband
- 7p22.1
- HGVS
- NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
- Allele change
- Nonsense_Q452X
Associated conditions / phenotypes
Lynch syndrome|Turcot syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Pulmonary insufficiency|Pulmonary arterial hypertension|Respiratory insufficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.