OMIM@xiajingbo:102630-4-ACTB JSONTXT

In a patient with Baraitser-Winter syndrome-1 (BRWS1; 243310), Riviere et al. (2012) identified a de novo mutation, a heterozygous C-to-G transversion at nucleotide 193 of the ACTB gene resulting in a leu-to-val substitution at codon 65 (L65V). This mutation was not identified in 244 other exomes.