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

EDARADD

Gene name: EDAR-associated death domain
OMIM ID: 606603
Chromosome location: 1q42.2-q43

Mutations

Disease/PhenotypeEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Reference transcriptNM_000115.3
DNA Changec.335T>G
A.A. Changep.Leu112Arg
Exon/Intronexon 6
Mutation Typesubstitution
ReferenceBal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A.Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
Hum Mutat. 2007 Jul;28(7):703-9.