Annotation Detail
Information
- Associated Genes
- HTRA1 ARMS2
- Associated Variants
-
HTRA1 p.Gly36= (p.G36=)
(
ENST00000648167.1,
ENST00000368984.8 )
HTRA1 p.Gly36= (p.G36=) ( ENST00000368984.8, ENST00000648167.1 ) - Associated Disease
- macular degeneration
- Source Database
- ClinVar
- Description
- NM_002775.5(HTRA1):c.108G>T (p.Gly36=) AND Macular degeneration
- ClinVar Allele ID
- 34178
- ClinVar RefSeq Alternation Syntax
- NM_002775.5:c.108G>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000313539
- ClinVar Disease
- Macular degeneration
- Observed Origin Sample
- germline
Drugs