Variant (rsID / SNP)
rs147911699
rs147911699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLD1. Location: chromosome 19, position 50,902,633. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
POLD1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:50902633
- Cytoband
- 19q13.33
- HGVS
- NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
- Allele change
- Missense_V70I
Associated conditions / phenotypes
Carcinoma of colon|Colorectal cancer, susceptibility to, 10|Hereditary cancer-predisposing syndrome|Familial colorectal cancer|Colorectal cancer, susceptibility to, 10|Mandibular hypoplasia-deafness-progeroid syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.