GJB6 gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

GJB6 (gap junction protein, beta 6, 30kDa)

LOVD v.3.0 Build 21 [ Current LOVD status ]
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	Curators: Lishuang Shen and Atteeq Rehman

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GJB6 gene homepage

General information
Gene symbol	GJB6
Gene name	gap junction protein, beta 6, 30kDa
Chromosome	13
Chromosomal band	q12
Imprinted	Unknown
Genomic reference	NC_000013.10
Transcript reference	NM_001110219.2, NM_001110220.2, NM_001110221.2, NM_006783.4
Associated with diseases	DFNB1A
Citation reference(s)	-
Curators (2)	Lishuang Shen and Atteeq Rehman
Total number of public variants reported	7
Unique public DNA variants reported	7
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Date created	January 09, 2015

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	4288
Entrez Gene	10804
PubMed articles	GJB6
OMIM - Gene	604418
OMIM - Diseases	DFNB1A (DEAFNESS, AUTOSOMAL RECESSIVE 1A)
HGMD	GJB6
GeneCards	GJB6
GeneTests	GJB6

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00003353	13	transcript variant 1	NM_001110219.2	NP_001103689.1	7
00003354	13	transcript variant 2	NM_001110220.2	NP_001103690.1	7
00003355	13	transcript variant 3	NM_006783.4	NP_006774.2	7
00003356	13	transcript variant 4	NM_001110221.2	NP_001103691.1	7

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