GJC1 gap junction protein gamma 1

Information
Symbol
GJC1
Type
protein-coding
Description
gap junction protein gamma 1
Entrez Gene ID
10052
Genome
hg19
Position
chr17:42,875,816-42,907,655
Genome
hg38
Position
chr17:44,798,448-44,830,287
MIM
608655 OMIM
HGNC
HGNC:4280 HGNC
Ensembl
ENSG00000182963 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 0
Benign 0 6
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
22
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 CX45
SYNONYM GJA7
MIM 608655 OMIM
HGNC HGNC:4280 HGNC
Ensembl ENSG00000182963 Ensembl
AllianceGenome HGNC:4280
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000330514.4 hg38 chr17 44,803,034 44,807,884 4,851
ENST00000590758.3 hg38 chr17 44,798,448 44,830,813 32,366
ENST00000592524.6 hg38 chr17 44,798,448 44,830,287 31,840
ENST00000592524.6 hg19 chr17 42,875,816 42,907,655 31,840
ENST00000590758.3 hg19 chr17 42,875,816 42,908,181 32,366
ENST00000330514.4 hg19 chr17 42,880,402 42,885,252 4,851
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