Free Mutation: COL6A3, c.1688A>G (p.Asp563Gly)
September 7 2016
Gene COL6A3 Mutation (gDNA level) chr2-238289767-T-C Mutation (cDNA level) c.1688A>G Reference sequence NM_004369.3 Prediction at protein level D563G (p.Asp563Gly) Mutation type missense Exon/intron location exon 5 of 44 Amino acid location aa 563 of 3178 Gene associated phenotype(s) Bethlem myopathy 1; Dystonia 27; Ullrich congenital muscular dystrophy 1 ClinVar ID 94910 dbSNP ID rs112913396 Clinical
