Annotation Detail
Information
- Associated Genes
- ERCC6
- Associated Variants
-
ERCC6 p.Met1097Val (p.M1097V)
(
ENST00000355832.10,
ENST00000681659.1 )
ERCC6 p.Met1097Val (p.M1097V) ( ENST00000355832.10, ENST00000681659.1 ) - Associated Disease
- macular degeneration
- Source Database
- ClinVar
- Description
- NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) AND Macular degeneration
- ClinVar Allele ID
- 134462
- ClinVar RefSeq Alternation Syntax
- NM_000124.4:c.3289A>G
- ClinVar RefSeq Alternation Syntax
- NM_001346440.2:c.3289A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000378942
- ClinVar Disease
- Macular degeneration
- Observed Origin Sample
- germline
Drugs