GJB6 gap junction protein beta 6

Information
Symbol
GJB6
Type
protein-coding
Description
gap junction protein beta 6
Entrez Gene ID
10804
Genome
hg19
Position
chr13:20,796,115-20,806,452
Genome
hg38
Position
chr13:20,221,976-20,232,313
MIM
604418 OMIM
HGNC
HGNC:4288 HGNC
Ensembl
ENSG00000121742 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 6
Benign 2 70
Likely benign 0 94
Conflicting classifications of pathogenicity 0 28
Uncertain significance 0 172
Ranking
ClinVar
0
0
76
252
6
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 CX30
SYNONYM DFNA3
SYNONYM DFNA3B
SYNONYM DFNB1B
SYNONYM ECTD2
SYNONYM ED2
SYNONYM EDH
SYNONYM HED
SYNONYM HED2
MIM 604418 OMIM
HGNC HGNC:4288 HGNC
Ensembl ENSG00000121742 Ensembl
AllianceGenome HGNC:4288
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000647243.1 hg38 chr13 20,221,996 20,232,191 10,196
ENST00000643121.1 hg38 chr13 20,221,976 20,232,313 10,338
ENST00000644667.1 hg38 chr13 20,222,484 20,230,978 8,495
ENST00000241124.11 hg38 chr13 20,221,962 20,231,233 9,272
ENST00000636852.1 hg38 chr13 20,222,058 20,225,683 3,626
ENST00000647029.1 hg38 chr13 20,221,962 20,232,319 10,358
ENST00000644283.1 hg38 chr13 20,221,971 20,232,365 10,395
ENST00000643211.1 hg38 chr13 20,221,977 20,232,319 10,343
ENST00000400066.8 hg38 chr13 20,221,976 20,232,340 10,365
ENST00000400065.7 hg38 chr13 20,221,971 20,232,303 10,333
ENST00000241124.11 hg19 chr13 20,796,101 20,805,372 9,272
ENST00000647029.1 hg19 chr13 20,796,101 20,806,458 10,358
ENST00000400065.7 hg19 chr13 20,796,110 20,806,442 10,333
ENST00000644283.1 hg19 chr13 20,796,110 20,806,504 10,395
ENST00000643121.1 hg19 chr13 20,796,115 20,806,452 10,338
ENST00000400066.8 hg19 chr13 20,796,115 20,806,479 10,365
ENST00000643211.1 hg19 chr13 20,796,116 20,806,458 10,343
ENST00000647243.1 hg19 chr13 20,796,135 20,806,330 10,196
ENST00000636852.1 hg19 chr13 20,796,197 20,799,822 3,626
ENST00000644667.1 hg19 chr13 20,796,623 20,805,117 8,495
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