Variant: rs104894826 

    present in Gene: GJB1
    present in Chromosome: X
    Position on Chromosome: 71224114
    Alleles of this Variant: T/C

rs104894826 in GJB1 gene and Charcot-Marie-Tooth disease, X-linked, 1 PMID 12402337 2002 Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

PMID 12325071 2002 Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

PMID 9099841 1997 Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).

PMID 11180613 2001 A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.

PMID 9856562 1998 Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.

PMID 10894999 2000 Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.

PMID 15852376 2005 Severe neuropathy with leaky connexin32 hemichannels.

PMID 9452025 1998 A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.

PMID 8807343 1996 Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 10234007 1999 Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.

PMID 11723288 2001 Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.

PMID 8889588 1996 Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.

PMID 7833935 1994 X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.

PMID 8162049 1994 Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

PMID 11891346 2002 Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.

PMID 9187667 1997 Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

PMID 9633821 1998 Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

PMID 11438991 2001 Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

PMID 7477983 1995 New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.

rs104894826 in GJB1 gene and Dejerine-Sottas Disease (disorder) PMID 15947997 2005 Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.