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 )
Source Database
ClinVar
Description
NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp) AND hydrochlorothiazide response - Efficacy
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
drug response
Clinical Significance Last Update
2021-03-24
Clinical Significance Review Status
reviewed by expert panel
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001787814
Observed Origin Sample
germline
Drugs