Annotation Detail

Information
Associated Genes
CYP3A5 ZSCAN25
Associated Variants
NM_000777.5(CYP3A5):c.219-237A>G AND Hypertension, salt-sensitive essential, susceptibility to
CYP3A5 c.219-237A>G ( ENST00000222982.8, ENST00000439761.3 )
Associated Disease
Hypertension, salt-sensitive essential, susceptibility to
Source Database
ClinVar
Description
NM_000777.5(CYP3A5):c.219-237A>G AND Hypertension, salt-sensitive essential, susceptibility to
ClinVar Allele ID
20105
ClinVar RefSeq Alternation Syntax
NM_001291829.2:c.-253-1A>G
ClinVar RefSeq Alternation Syntax
NM_001190484.3:c.219-237A>G
ClinVar RefSeq Alternation Syntax
NM_001291830.2:c.189-237A>G
ClinVar RefSeq Alternation Syntax
NM_000777.5:c.219-237A>G
Clinical Significance Description
risk factor
Clinical Significance Last Update
2004-12-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000005370
ClinVar Disease
Hypertension, salt-sensitive essential, susceptibility to
Observed Origin Sample
germline
Pubmed
12065767
Pubmed
12754175
Pubmed
11740341
Pubmed
11279519
Pubmed
15492926
Drugs