GJA5 gap junction protein alpha 5

Information
Symbol
GJA5
Type
protein-coding
Description
gap junction protein alpha 5
Entrez Gene ID
2702
Genome
hg19
Position
chr1:147,228,332-147,232,710
Genome
hg38
Position
chr1:147,756,199-147,760,602
MIM
121013 OMIM
HGNC
HGNC:4279 HGNC
Ensembl
ENSG00000265107 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Benign 5 15
Likely benign 0 138
Conflicting classifications of pathogenicity 0 14
not provided 6 0
Uncertain significance 0 364
Ranking
ClinVar
0
0
54
453
12
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 ATFB11
SYNONYM CX40
MIM 121013 OMIM
HGNC HGNC:4279 HGNC
Ensembl ENSG00000265107 Ensembl
AllianceGenome HGNC:4279
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000621517.1 hg38 chr1 147,756,200 147,773,362 17,163
ENST00000579774.3 hg38 chr1 147,756,199 147,760,602 4,404
ENST00000579774.3 hg19 chr1 147,228,332 147,232,710 4,379
ENST00000621517.1 hg19 chr1 147,228,333 147,245,466 17,134
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