TRIM32, tripartite motif containing 32, 22954

N. diseases: 113; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0270968
Disease:
Limb-girdle muscular dystrophy type 2H 		A 0.820 CausalMutation CLINVAR To get insight into TRIM32's role in the pathogenesis of LGMD2H and to create an accurate model of disease, we have generated a knock-in mouse (T32KI) carrying the c.1465G > A (p.D489N) mutation in murine Trim32 corresponding to the human LGMD2H/STM pathogenic mutation c.1459G > A (p.D487N). 21775502 2011
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0270968
Disease:
Limb-girdle muscular dystrophy type 2H 		0.820 GeneticVariation BEFREE In 2005 the commonality of sarcotubular myopathy (STM) and limb girdle muscular dystrophy type 2H (LGMD2H) was demonstrated, as both are caused by the p D487N missense mutation in TRIM32 originally found in the Manitoba Hutterite population. 19492423 2009
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0270968
Disease:
Limb-girdle muscular dystrophy type 2H 		0.820 GeneticVariation UNIPROT Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. 17994549 2008
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0270968
Disease:
Limb-girdle muscular dystrophy type 2H 		A 0.820 CausalMutation CLINVAR The TRIM32 mutation found in the STM patients is identical to the causative mutation for LGMD2H (D487N), Haplotype analysis shows that the disease chromosomes share common ancestry. 15786463 2005
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0270968
Disease:
Limb-girdle muscular dystrophy type 2H 		0.820 GeneticVariation UNIPROT On the basis of our results, the mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H. 11822024 2002
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0270968
Disease:
Limb-girdle muscular dystrophy type 2H 		A 0.820 CausalMutation CLINVAR On the basis of our results, the mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H. 11822024 2002
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0270968
Disease:
Limb-girdle muscular dystrophy type 2H 		0.820 GeneticVariation BEFREE On the basis of our results, the mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H. 11822024 2002
dbSNP: rs111033571
rs111033571
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C1859569
Disease:
BARDET-BIEDL SYNDROME 11 		0.800 GeneticVariation UNIPROT Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 16606853 2006
dbSNP: rs111033571
rs111033571
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C1859569
Disease:
BARDET-BIEDL SYNDROME 11 		T 0.800 CausalMutation CLINVAR
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. 23142638 2013
dbSNP: rs759376012
rs759376012
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		G 0.700 CausalMutation CLINVAR Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. 23142638 2013
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype. 21775502 2011
dbSNP: rs121434447
rs121434447
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0270968
Disease:
Limb-girdle muscular dystrophy type 2H 		0.700 GeneticVariation UNIPROT Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. 17994549 2008
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. 15786463 2005
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. 11822024 2002
dbSNP: rs121434447
rs121434447
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0270968
Disease:
Limb-girdle muscular dystrophy type 2H 		0.700 GeneticVariation UNIPROT Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. 11822024 2002
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0026848
Disease:
Myopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs111033571
rs111033571
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs3747835
rs3747835
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C1859569
Disease:
BARDET-BIEDL SYNDROME 11 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs747685252
rs747685252
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0686353
Disease:
Muscular Dystrophies, Limb-Girdle 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs886044913
rs886044913
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0241005
Disease:
Creatine phosphokinase serum increased 		GTA 0.700 CausalMutation CLINVAR
dbSNP: rs111033570
rs111033570
Entrez Id: 22954;23245
Gene Symbol: TRIM32;ASTN2
TRIM32;ASTN2
CUI: C0686353
Disease:
Muscular Dystrophies, Limb-Girdle 		0.010 GeneticVariation BEFREE A homozygous mutation at the third NHL repeat (D487N) has been found in patients with limb girdle muscular dystrophy 2H (LGMD2H). 17994549 2008