View gene EDAR

General information
Gene symbol EDAR
Gene name ectodysplasin A receptor
Chromosome 2
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_008257.1
Transcript reference NM_022336.3
Exon/intron information NM_022336.3
Associated with diseases ECTD-10A, ECTD-10B, HRM-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 11
Unique public DNA variants reported 10
Individuals with public variants 11
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated January 27, 2016
Version EDAR:160127

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/EDAR
HGNC 2895
Entrez Gene 10913
PubMed articles EDAR
OMIM - Gene 604095
OMIM - Diseases ECTD-10A (dysplasia, ectodermal, type 10A, hypohidrotic/hair/nail, autosomal dominant (ECTD-10A))
ECTD-10B (dysplasia, ectodermal, type 10B, hypohidrotic/hair/tooth, autosomal recessive (ECTD-10B))
HRM-1 (hair morphology, type 1, thickness (HRM-1))
HGMD EDAR
GeneCards EDAR
GeneTests EDAR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006860 2 ectodysplasin A receptor NM_022336.3 NP_071731.1 11


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