Annotation Detail

Information
Associated Genes
GNB3 CDCA3
Associated Variants
GNB3 p.Ser275= (p.S275=) ( ENST00000435982.6, ENST00000229264.8, ENST00000422785.7 )
GNB3 p.Ser275= (p.S275=) ( ENST00000229264.8, ENST00000435982.6, ENST00000422785.7 )
Associated Disease
Hypertension, essential, susceptibility to
Source Database
ClinVar
Description
NM_002075.4(GNB3):c.825C>T (p.Ser275=) AND Hypertension, essential, susceptibility to
ClinVar Allele ID
227813
ClinVar RefSeq Alternation Syntax
NM_002075.4:c.825C>T
ClinVar RefSeq Alternation Syntax
NM_001297571.2:c.822C>T
ClinVar RefSeq Alternation Syntax
NM_001297603.3:c.*1077G>A
Clinical Significance Description
risk factor
Clinical Significance Last Update
2003-04-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001824025
ClinVar Disease
Hypertension, essential, susceptibility to
Observed Origin Sample
germline
Pubmed
9425898
Pubmed
10770297
Pubmed
10770309
Pubmed
11322952
Pubmed
12668921
Pubmed
10477144
Pubmed
10770310
Pubmed
10523525
Drugs