Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

GJB1

Gene name: gap junction protein, beta 1, 32kDa
OMIM ID: 304040
Chromosome location: Xq13.1

Mutations

Disease/PhenotypeCharcot-Marie-Tooth neuropathy, X-linked dominant, 1
Reference transcriptNM_000166.5
DNA Changec.439delG
A.A. Changep.Ala147ProfsX49
Exon/Intronexon 2
Mutation Typedeletion
ReferenceMeggouh F, Benomar A, Rouger H, Tardieu S, Birouk N, Tassin J, Barhoumi C, Yahyaoui M, Chkili T, Brice A, LeGuern E.The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
J Med Genet. 1998 Mar;35(3):251-2.