Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs148069478

PMS2

rs148069478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,027,197. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PMS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:6027197
Cytoband
7p22.1
HGVS
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
Allele change
Missense_Q209P

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms

Public references

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