Gene: ASTN2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
A 0.700 CausalMutation CLINVAR Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. 23142638

2013
dbSNP: rs759376012
rs759376012
TRIM32 ; ASTN2
G 0.700 CausalMutation CLINVAR Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. 23142638

2013
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
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: rs111033570
rs111033570
TRIM32 ; ASTN2
A 0.700 CausalMutation CLINVAR Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. 15786463

2005
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
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: rs111033571
rs111033571
TRIM32 ; ASTN2
T 0.700 CausalMutation CLINVAR