S46A (p.Ser46Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
S46A (p.Ser46Ala) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bethlem myopathy 1A. The record also includes published literature and structural context.
S46A (p.Ser46Ala) variant details
- p.Ser46Ala
- rs2469975271
- ClinGen CA351228360
- ClinVar RCV003631469
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)