Annotation Detail
Information
- Associated Genes
- HMCN1
- Associated Variants
-
HMCN1 p.Gln5345Arg (p.Q5345R)
(
ENST00000271588.9 )
HMCN1 p.Gln5345Arg (p.Q5345R) ( ENST00000271588.9 ) - Associated Disease
- MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
- Source Database
- ClinVar
- Description
- NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg) AND MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
- ClinVar Allele ID
- 17244
- ClinVar RefSeq Alternation Syntax
- NM_031935.3:c.16034A>G
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2007-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002289
- ClinVar Disease
- MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
- Observed Origin Sample
- germline
- Pubmed
- 14570714
- Pubmed
- 17216616
- Pubmed
- 9715689
Drugs