Annotation Detail
Information
- Associated Genes
- ADD1
- Associated Variants
-
ADD1 p.Gly460Trp (p.G460W)
(
ENST00000264758.11,
ENST00000398129.5,
ENST00000683351.1 )
ADD1 p.Gly460Trp (p.G460W) ( ENST00000264758.11, ENST00000398129.5, ENST00000683351.1 ) - Associated Disease
- Hypertension, salt-sensitive essential, susceptibility to
- Source Database
- ClinVar
- Description
- NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp) AND Hypertension, salt-sensitive essential, susceptibility to
- ClinVar Allele ID
- 33313
- ClinVar RefSeq Alternation Syntax
- NM_176801.3:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354762.2:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_014189.4:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354756.2:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354757.2:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_014190.4:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354758.2:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354761.2:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354759.2:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_001119.5:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_001286645.2:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354755.2:c.1378G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354754.2:c.1378G>T
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 1999-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019936
- ClinVar Disease
- Hypertension, salt-sensitive essential, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 9607177
- Pubmed
- 10024330
- Pubmed
- 9149697
Drugs