EDARADD
Gene name: EDAR-associated death domainOMIM ID: 606603
Chromosome location: 1q42.2-q43
Mutations
| Disease/Phenotype | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
|---|---|
| Reference transcript | NM_000115.3 |
| DNA Change | c.335T>G |
| A.A. Change | p.Leu112Arg |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Bal 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. |