Variant (rsID / SNP)
rs63750250
rs63750250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,026,564. Clinical significance in the table: Pathogenic.
Reference-table entries
PMS2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 7:6026564
- Cytoband
- 7p22.1
- HGVS
- NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
Associated conditions / phenotypes
Lynch syndrome|Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Turcot syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.