GJA8 gap junction protein alpha 8

Information
Symbol
GJA8
Type
protein-coding
Description
gap junction protein alpha 8
Entrez Gene ID
2703
Genome
hg19
Position
chr1:147,374,921-147,381,396
Genome
hg38
Position
chr1:147,902,795-147,909,269
MIM
600897 OMIM
HGNC
HGNC:4281 HGNC
Ensembl
ENSG00000121634 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 74
Likely pathogenic 0 34
Benign 2 28
Likely benign 0 66
Conflicting classifications of pathogenicity 0 12
not provided 6 0
Uncertain significance 0 168
Ranking
ClinVar
0
0
42
278
32
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 CAE
SYNONYM CAE1
SYNONYM CTRCT1
SYNONYM CX50
SYNONYM CZP1
SYNONYM MP70
MIM 600897 OMIM
HGNC HGNC:4281 HGNC
Ensembl ENSG00000121634 Ensembl
AllianceGenome HGNC:4281
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369235.2 hg38 chr1 147,902,795 147,909,269 6,475
ENST00000369235.2 hg19 chr1 147,374,921 147,381,396 6,476
Genome browser