TMEM43, transmembrane protein 43, 79188

N. diseases: 78; N. variants: 5
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: rs397514044
rs397514044
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C3553060
Disease:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. 21391237 2011
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: rs397514044
rs397514044
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C3553060
Disease:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		0.770 GeneticVariation BEFREE TMEM43-S358L mutation enhances NF-κB-TGFβ signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy. 29980933 2019
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		0.770 GeneticVariation BEFREE Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy. 26966288 2016
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		0.770 GeneticVariation BEFREE We screened 22 unrelated ARVC patients without mutations in desmosomal genes and identified the TMEM43-p.S358L mutation in a German ARVC family. 24598986 2015
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.770 CausalMutation CLINVAR We screened 22 unrelated ARVC patients without mutations in desmosomal genes and identified the TMEM43-p.S358L mutation in a German ARVC family. 24598986 2015
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		0.770 GeneticVariation BEFREE These observations suggest that expression of the p.S358L mutant of TMEM43 found in ARVC type 5 may affect localization of proteins involved in conduction, alter gap junction function and reduce conduction velocity in cardiac tissue. 25343256 2014
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.770 CausalMutation CLINVAR Of 195 unrelated individuals with suspected ARVC, mutation of desmosomal proteins was seen in 28 and the p.S358L TMEM43 mutation in six. 23812740 2013
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		0.770 GeneticVariation BEFREE To determine the phenotype and natural history of a founder genetic subtype of autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) caused by a p.S358L mutation in TMEM43. 22725725 2013
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		0.770 GeneticVariation BEFREE A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically identified to cause ARVC type 5 in a founder population from Newfoundland. 23812740 2013
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.770 CausalMutation CLINVAR The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. 22725725 2013
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.770 CausalMutation CLINVAR Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. 22458570 2012
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		0.770 GeneticVariation BEFREE Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. 22458570 2012
dbSNP: rs63750743
rs63750743
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.770 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: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.770 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: rs144811578
rs144811578
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C3553060
Disease:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. 21391237 2011
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