TMEM43, transmembrane protein 43, 79188

N. diseases: 78; N. variants: 5
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C1858379
Disease:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C1858379
Disease:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C1858379
Disease:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		T 0.800 CausalMutation CLINVAR TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy. 25343256 2014
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C1858379
Disease:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C1858379
Disease:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		T 0.800 CausalMutation CLINVAR TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 23812740 2013
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C1858379
Disease:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		T 0.800 CausalMutation CLINVAR Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. 21214875 2011
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C1858379
Disease:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.800 GeneticVariation UNIPROT Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. 18313022 2008
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C1858379
Disease:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		T 0.800 CausalMutation CLINVAR Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. 18313022 2008
dbSNP: rs151010429
rs151010429
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C1858379
Disease:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		A 0.700 CausalMutation CLINVAR