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
- CARASIL syndrome
- Source Database
- ClinVar
- Description
- NM_002775.5(HTRA1):c.108G>C (p.Gly36=) AND CARASIL syndrome
- ClinVar Allele ID
- 34177
- ClinVar RefSeq Alternation Syntax
- NM_002775.5:c.108G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-06-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000020490
- ClinVar Disease
- CARASIL syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs