View gene EDARADD

General information
Gene symbol EDARADD
Gene name EDAR-associated death domain
Chromosome 1
Chromosomal band q42.3
Imprinted Unknown
Genomic reference NG_011566.1
Transcript reference NM_145861.2
Exon/intron information NM_145861.2
Associated with diseases ECTD-11A, ECTD-11B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 2
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated January 25, 2016
Version EDARADD:160125

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/EDARADD
HGNC 14341
Entrez Gene 128178
PubMed articles EDARADD
OMIM - Gene 606603
OMIM - Diseases ECTD-11A (dysplasia, ectodermal, type 11A, hypohidrotic/hair/tooth, autosomal dominant (ECTD-11A))
ECTD-11B (dysplasia, ectodermal, type 11B, hypohidrotic/hair/tooth, autosomal recessive (ECTD-11B))
HGMD EDARADD
GeneCards EDARADD
GeneTests EDARADD


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006861 1 transcript variant A NM_145861.2 NP_665860.2 2


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