EDARADD EDAR associated via death domain

Information
Symbol
EDARADD
Type
protein-coding
Description
EDAR associated via death domain
Entrez Gene ID
128178
Genome
hg19
Position
chr1:236,557,586-236,648,230
Genome
hg38
Position
chr1:236,394,286-236,484,930
MIM
606603 OMIM
HGNC
HGNC:14341 HGNC
Ensembl
ENSG00000186197 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 8
Benign 0 92
Likely benign 0 42
Conflicting classifications of pathogenicity 0 18
not provided 0 2
Uncertain significance 0 150
Ranking
ClinVar
0
0
38
244
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CR
SYNONYM ECTD11A
SYNONYM ECTD11B
SYNONYM ED3
SYNONYM EDA3
MIM 606603 OMIM
HGNC HGNC:14341 HGNC
Ensembl ENSG00000186197 Ensembl
AllianceGenome HGNC:14341
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000359362.6 hg38 chr1 236,395,413 236,484,930 89,518
ENST00000334232.9 hg38 chr1 236,394,286 236,484,930 90,645
ENST00000637660.1 hg38 chr1 236,348,257 236,484,837 136,581
ENST00000637660.1 hg19 chr1 236,511,557 236,648,137 136,581
ENST00000334232.9 hg19 chr1 236,557,586 236,648,230 90,645
ENST00000359362.6 hg19 chr1 236,558,713 236,648,230 89,518
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