Variant (rsID / SNP)

rs398122386

rs398122386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLD1. Location: chromosome 19, position 50,912,075. Clinical significance in the table: Pathogenic.

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Reference-table entries

POLD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 19:50912075
Cytoband: 19q13.33
HGVS: NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del)

Associated conditions / phenotypes

Mandibular hypoplasia-deafness-progeroid syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 10

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.