Annotation Detail
Information
- Associated Genes
- ARMS2
- Associated Variants
-
ARMS2 p.Arg3His (p.R3H)
(
ENST00000528446.1 )
ARMS2 p.Arg3His (p.R3H) ( ENST00000528446.1 ) - Associated Disease
- age related macular degeneration 8
- Source Database
- ClinVar
- Description
- NM_001099667.3(ARMS2):c.8G>A (p.Arg3His) AND Age related macular degeneration 8
- ClinVar Allele ID
- 320472
- ClinVar RefSeq Alternation Syntax
- NM_001099667.3:c.8G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000275891
- ClinVar Disease
- Age related macular degeneration 8
- Observed Origin Sample
- germline
Drugs