Annotation Detail
Information
- Associated Genes
- ERCC5 BIVM-ERCC5
- Associated Variants
-
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H)
(
ENST00000652613.1,
ENST00000652225.2,
ENST00000639435.1,
ENST00000639132.1 )
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 ) - Associated Disease
- cerebrooculofacioskeletal syndrome 3
- Source Database
- ClinVar
- Description
- NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) AND Cerebrooculofacioskeletal syndrome 3
- ClinVar Allele ID
- 134457
- ClinVar RefSeq Alternation Syntax
- NM_001204425.2:c.4672G>C
- ClinVar RefSeq Alternation Syntax
- NM_000123.4:c.3310G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001657728
- ClinVar Disease
- Cerebrooculofacioskeletal syndrome 3
- Observed Origin Sample
- germline
Drugs