Variant (rsID / SNP)

rs63750261

rs63750261 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,038,741. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PMS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:6038741
Cytoband: 7p22.1
HGVS: NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)
Allele change: Silent

Associated conditions / phenotypes

Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.