Annotation Detail
Information
- Associated Genes
- HMCN1
- Associated Variants
-
HMCN1 p.Gln5345Arg (p.Q5345R)
(
ENST00000271588.9 )
HMCN1 p.Gln5345Arg (p.Q5345R) ( ENST00000271588.9 ) - Associated Disease
- age related macular degeneration 1
- Source Database
- ClinVar
- Description
- NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg) AND Age related macular degeneration 1
- ClinVar Allele ID
- 17244
- ClinVar RefSeq Alternation Syntax
- NM_031935.3:c.16034A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001102262
- ClinVar Disease
- Age related macular degeneration 1
- Observed Origin Sample
- germline
Drugs