Annotation Detail
Information
- Associated Genes
- POLD1
- Associated Variants
-
POLD1 p.Arg119His (p.R119H)
(
ENST00000440232.7,
ENST00000593887.2,
ENST00000595904.6,
ENST00000599857.7,
ENST00000601098.6,
ENST00000613923.6,
ENST00000644560.2,
ENST00000687454.1 )
POLD1 p.Arg119His (p.R119H) ( ENST00000440232.7, ENST00000593887.2, ENST00000595904.6, ENST00000599857.7, ENST00000601098.6, ENST00000613923.6, ENST00000644560.2, ENST00000687454.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_002691.4(POLD1):c.356G>A (p.Arg119His) AND not specified
- ClinVar Allele ID
- 377922
- ClinVar RefSeq Alternation Syntax
- NM_002691.4:c.356G>A
- ClinVar RefSeq Alternation Syntax
- NM_001256849.1:c.356G>A
- ClinVar RefSeq Alternation Syntax
- NM_001308632.1:c.356G>A
- ClinVar RefSeq Alternation Syntax
- NR_046402.2:n.401G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000424291
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs