Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Arg722Trp (p.R722W)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Arg722Trp (p.R722W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 ) - Associated Disease
- cerebrooculofacioskeletal syndrome 2
- Source Database
- ClinVar
- Description
- NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) AND Cerebrooculofacioskeletal syndrome 2
- ClinVar Allele ID
- 31831
- ClinVar RefSeq Alternation Syntax
- NM_000400.4:c.2164C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-05-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000677676
- ClinVar Disease
- Cerebrooculofacioskeletal syndrome 2
- Observed Origin Sample
- unknown
Drugs