Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
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
TRIM32 ; ASTN2
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
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
TRIM32 ; ASTN2
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
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