Variant (rsID / SNP)
rs1805324
rs1805324 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,026,530. Clinical significance in the table: Benign.
Reference-table entries
PMS2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:6026530
- Cytoband
- 7p22.1
- HGVS
- NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
- Allele change
- Missense_M431I
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Neoplasm of ovary|Endometrial carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.