GJA3 gap junction protein alpha 3

Information
Symbol
GJA3
Type
protein-coding
Description
gap junction protein alpha 3
Entrez Gene ID
2700
Genome
hg19
Position
chr13:20,712,394-20,735,191
Genome
hg38
Position
chr13:20,138,255-20,161,052
MIM
121015 OMIM
HGNC
HGNC:4277 HGNC
Ensembl
ENSG00000121743 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 36
Likely pathogenic 0 24
Benign 2 84
Likely benign 0 38
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 232
Ranking
ClinVar
0
0
40
332
28
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 CTRCT14
SYNONYM CX46
SYNONYM CZP3
MIM 121015 OMIM
HGNC HGNC:4277 HGNC
Ensembl ENSG00000121743 Ensembl
AllianceGenome HGNC:4277
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000241125.4 hg38 chr13 20,138,255 20,161,052 22,798
ENST00000241125.4 hg19 chr13 20,712,394 20,735,191 22,798
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