Variant (rsID / SNP)

rs1057521069

rs1057521069 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,031,659. Clinical significance in the table: Likely benign.

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Reference-table entries

PMS2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:6031659
Cytoband: 7p22.1
HGVS: NM_000535.7(PMS2):c.933C>T (p.His311=)
Allele change: Missense_H120Q

Associated conditions / phenotypes

Hereditary cancer-predisposing 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.