Variant (rsID / SNP)
rs139194813
rs139194813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,031,656. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PMS2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:6031656
- Cytoband
- 7p22.1
- HGVS
- NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
- Allele change
- Missense_M121I
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.