Variant (rsID / SNP)

rs1064794173

rs1064794173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,045,544. Clinical significance in the table: Pathogenic.

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Reference-table entries

PMS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 7:6045544
Cytoband: 7p22.1
HGVS: NM_000535.7(PMS2):c.142del (p.Asp48fs)

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.