Variant (rsID / SNP)

rs1057515571

rs1057515571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,035,222. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PMS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 7:6035222
Cytoband: 7p22.1
HGVS: NM_000535.7(PMS2):c.846del (p.Ser283fs)

Associated conditions / phenotypes

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.