Annotation Detail

Information

Associated Genes: NOS3
Associated Variants: NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease: Hypertension resistant to conventional therapy
Source Database: ClinVar
Description: NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) AND Hypertension resistant to conventional therapy
ClinVar Allele ID: 29054
ClinVar RefSeq Alternation Syntax: NM_001160109.2:c.894T>G
ClinVar RefSeq Alternation Syntax: NM_000603.5:c.894T>G
ClinVar RefSeq Alternation Syntax: NM_001160110.1:c.894T>G
ClinVar RefSeq Alternation Syntax: NM_001160111.1:c.894T>G
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2007-04-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000015056
ClinVar Disease: Hypertension resistant to conventional therapy
Observed Origin Sample: germline
Pubmed: 10510054
Pubmed: 16813604
Pubmed: 11394896
Pubmed: 9894802
Pubmed: 11026457
Pubmed: 9737779
Pubmed: 16059745
Pubmed: 15007011
Pubmed: 17165044
Pubmed: 11745998
Pubmed: 11354626
Pubmed: 10475066
Pubmed: 10514107

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