Annotation Detail
Information
- Associated Genes
- DBH
- Associated Variants
-
DBH p.Glu162= (p.E162=)
(
ENST00000393056.8 )
DBH p.Glu162= (p.E162=) ( ENST00000393056.8 ) - Associated Disease
- Orthostatic hypotension 1
- Source Database
- ClinVar
- Description
- NM_000787.4(DBH):c.486A>G (p.Glu162=) AND Orthostatic hypotension 1
- ClinVar Allele ID
- 214410
- ClinVar RefSeq Alternation Syntax
- NM_000787.4:c.486A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000201821
- ClinVar Disease
- Orthostatic hypotension 1
- Observed Origin Sample
- germline
Drugs