Annotation Detail
Information
- Associated Genes
- ARMS2
- Associated Variants
-
ARMS2 p.Arg38Ter (p.R38*)
(
ENST00000528446.1 )
ARMS2 p.Arg38Ter (p.R38*) ( ENST00000528446.1 ) - Associated Disease
- age related macular degeneration 8
- Source Database
- ClinVar
- Description
- NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter) AND Age related macular degeneration 8
- ClinVar Allele ID
- 314432
- ClinVar RefSeq Alternation Syntax
- NM_001099667.3:c.112C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000316955
- ClinVar Disease
- Age related macular degeneration 8
- Observed Origin Sample
- germline
Drugs