Variant (rsID / SNP)

rs878854037

rs878854037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,026,805. 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: 7:6026805
Cytoband: 7p22.1
HGVS: NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter)
Allele change: Nonsense_E340X

Associated conditions / phenotypes

Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms

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.