GJD3 gap junction protein delta 3

Information
Symbol
GJD3
Type
protein-coding
Description
gap junction protein delta 3
Entrez Gene ID
125111
Genome
hg19
Position
chr17:38,516,904-38,520,989
Genome
hg38
Position
chr17:40,360,652-40,364,737
MIM
607425 OMIM
HGNC
HGNC:19147 HGNC
Ensembl
ENSG00000183153 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
not provided 2 0
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
40
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 CX31.9
SYNONYM Cx30.2
SYNONYM GJA11
SYNONYM GJC1
MIM 607425 OMIM
HGNC HGNC:19147 HGNC
Ensembl ENSG00000183153 Ensembl
AllianceGenome HGNC:19147
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000578689.2 hg38 chr17 40,360,652 40,364,737 4,086
ENST00000578689.2 hg19 chr17 38,516,904 38,520,989 4,086
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