Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Asp312Asn (p.D312N)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000485403.6,
ENST00000684407.1 )
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 ) - Associated Disease
- cerebrooculofacioskeletal syndrome 2
- Source Database
- ClinVar
- Description
- NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) AND Cerebrooculofacioskeletal syndrome 2
- ClinVar Allele ID
- 137856
- ClinVar RefSeq Alternation Syntax
- NM_000400.4:c.934G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130867.2:c.862G>A
- 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/RCV001657759
- ClinVar Disease
- Cerebrooculofacioskeletal syndrome 2
- Observed Origin Sample
- germline
Drugs