Variant (rsID / SNP)

rs1060503138

rs1060503138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,026,505. 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: 7:6026505
Cytoband: 7p22.1
HGVS: NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)
Allele change: Nonsense_Q440X

Associated conditions / phenotypes

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.