Annotation Detail
Information
- Associated Genes
- ARMS2
- Associated Variants
-
ARMS2 p.Ala69Ser (p.A69S)
(
ENST00000528446.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 ) - Associated Disease
- age related macular degeneration 8
- Source Database
- ClinVar
- Description
- NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) AND Age related macular degeneration 8
- ClinVar Allele ID
- 16018
- ClinVar RefSeq Alternation Syntax
- NM_001099667.3:c.205G>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/RCV000001030
- ClinVar Disease
- Age related macular degeneration 8
- Observed Origin Sample
- germline
- Pubmed
- 17884985
- Pubmed
- 19259132
- Pubmed
- 16936732
- Pubmed
- 16174643
- Pubmed
- 21670343
- Pubmed
- 23455636
- Pubmed
- 16642439
Drugs