Annotation Detail
Information
- Associated Genes
- ERCC5 BIVM-ERCC5
- Associated Variants
-
BIVM-ERCC5 p.Ala1490Thr (p.A1490T), ERCC5 p.Ala1036Thr (p.A1036T)
(
ENST00000652225.2,
ENST00000652613.1,
ENST00000639435.1,
ENST00000639132.1 )
BIVM-ERCC5 p.Ala1490Thr (p.A1490T), ERCC5 p.Ala1036Thr (p.A1036T) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) AND not specified
- ClinVar Allele ID
- 137910
- ClinVar RefSeq Alternation Syntax
- NM_001204425.2:c.4468G>A
- ClinVar RefSeq Alternation Syntax
- NM_000123.4:c.3106G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-09-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000120844
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs