Variant (rsID / SNP)

rs1064794083

rs1064794083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,043,605. Clinical significance in the table: Pathogenic.

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Reference-table entries

PMS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:6043605
Cytoband: 7p22.1
HGVS: NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
Allele change: Silent

Associated conditions / phenotypes

Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome

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.