CAV3, caveolin 3, 859

N. diseases: 163; N. variants: 56
Disease: LONG QT SYNDROME 9 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893714
rs104893714
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C2678485
Disease:
LONG QT SYNDROME 9 (disorder) 		0.820 GeneticVariation BEFREE Here, we determine the effect of long-QT syndrome-9-<i>CAV3</i> mutation F97C on Kir2.x homo- and heterotetramers and model-associated arrhythmia mechanisms. 29326130 2018
dbSNP: rs104893714
rs104893714
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C2678485
Disease:
LONG QT SYNDROME 9 (disorder) 		0.820 GeneticVariation BEFREE HEK-293 cells expressing SCN5A and LQT9 mutation Cav3-F97C resulted in a 2-fold increase in late INa compared to Cav3-WT. 23541953 2013
dbSNP: rs104893714
rs104893714
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C2678485
Disease:
LONG QT SYNDROME 9 (disorder) 		0.820 GeneticVariation UNIPROT Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 17275750 2007
dbSNP: rs104893714
rs104893714
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C2678485
Disease:
LONG QT SYNDROME 9 (disorder) 		0.820 GeneticVariation UNIPROT Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 17060380 2006
dbSNP: rs104893714
rs104893714
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C2678485
Disease:
LONG QT SYNDROME 9 (disorder) 		G 0.820 SusceptibilityMutation CLINVAR