Variant (rsID / SNP)
rs1805321
rs1805321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,026,988. Clinical significance in the table: Benign.
Reference-table entries
PMS2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:6026988
- Cytoband
- 7p22.1
- HGVS
- NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
- Allele change
- Missense_P279S
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma|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.