Variant (rsID / SNP)

rs111466480

rs111466480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,043,319. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PMS2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:6043319
Cytoband: 7p22.1
HGVS: NM_000535.7(PMS2):c.353+2T>C
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.