Variant: rs104894810 

    present in Gene: GJB1
    present in Chromosome: X
    Position on Chromosome: 71224131
    Alleles of this Variant: C/T

rs104894810 in GJB1 gene and Charcot-Marie-Tooth disease, X-linked, 1 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 9452025 1998 A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.

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

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

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

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

PMID 15852376 2005 Severe neuropathy with leaky connexin32 hemichannels.

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

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

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

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

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

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

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

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

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

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