Free Mutation: CUL4B, c.26G>A (p.Gly9Glu)
September 16 2016
Gene CUL4B Mutation (gDNA level) chrX-119708447-C-T Mutation (cDNA level) c.26G>A Reference sequence NM_003588.3 Prediction at protein level G9E (p.Gly9Glu) Mutation type missense Exon/intron location exon 2 of 22 Amino acid location aa 9 of 914 Gene associated phenotype(s) Mental retardation, X-linked, syndromic 15 (Cabezas type) ClinVar ID na dbSNP ID rs149016283 Clinical information (terms) facial
