D71V (p.Asp71Val) variant of SGCA (Alpha-sarcoglycan)
D71V (p.Asp71Val) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D. The record also includes structural context.
D71V (p.Asp71Val) variant details
- p.Asp71Val
- rs2509118747
- ClinGen CA400177411
- ClinVar RCV003486341
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available