Annotation Detail
Information
- Associated Genes
- ERCC5 BIVM-ERCC5
- Associated Variants
-
BIVM-ERCC5 p.Met708Val (p.M708V), ERCC5 p.Met254Val (p.M254V)
(
ENST00000652613.1,
ENST00000652225.2,
ENST00000639435.1,
ENST00000639132.1 )
BIVM-ERCC5 p.Met708Val (p.M708V), ERCC5 p.Met254Val (p.M254V) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000123.4(ERCC5):c.760A>G (p.Met254Val) AND not provided
- ClinVar Allele ID
- 134458
- ClinVar RefSeq Alternation Syntax
- NM_001204425.2:c.2122A>G
- ClinVar RefSeq Alternation Syntax
- NM_000123.4:c.760A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-25
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001668235
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs