GJB1 Chromosome X

Gap junction protein beta 1
267 variants 267 Health Risk

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What This Gene Does
This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000169562
Associated Conditions (18)
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease
Inborn genetic diseases
GJB1-related disorder
Peripheral neuropathy
Cerebellar ataxia
Pes cavus
Hammertoe
Decreased nerve conduction velocity
Sensory neuropathy
Distal muscle weakness
Peroneal muscle atrophy
Distal lower limb muscle weakness
Hand muscle atrophy
8 conditions
Dejerine-Sottas disease
Hereditary neuropathy or pain disorder
Key Variants
RS1003232768
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS104894820
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS104894825
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
Health Risk
RS1057524799
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases
Health Risk
RS1060501001
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS1064793139
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS116840823
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS1213746899
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS1299325261
Conflicting classifications of pathogenicity
Inborn genetic diseases, Charcot-Marie-Tooth Neuropathy X, GJB1-related disorder
Health Risk
RS1383588318
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
Health Risk
RS144381053
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
Health Risk
RS1555936989
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
Health Risk
All Variants (267)
RSID Category Clinical Significance Conditions
RS1003232768 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS104894820 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS104894825 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS1057524799 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases
RS1060501001 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1064793139 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS116840823 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1213746899 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1299325261 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth Neuropathy X, GJB1-related disorder
RS1383588318 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS144381053 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS1555936989 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1555937077 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1555937145 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1555937161 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Peripheral neuropathy, Charcot-Marie-Tooth Neuropathy X
RS1555937221 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1555937244 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1569215263 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1569215413 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS1569215418 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602348662 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602348735 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS1602348737 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS1602348804 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602348876 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS1602349004 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS1602349143 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349280 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349316 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349446 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349591 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349779 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602349962 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602350003 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602350029 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602350062 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS2092542885 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2092543301 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2092543367 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519797858 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, GJB1-related disorder, Charcot-Marie-Tooth Neuropathy X
RS587777879 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS587781246 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases
RS748095080 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS753207004 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS753503984 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases, Charcot-Marie-Tooth disease
RS768834663 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS769112084 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases, Charcot-Marie-Tooth Neuropathy X
RS770116247 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS776040132 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS780335726 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases
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