Variant: rs104894623 

    present in Gene: PMP22
    present in Chromosome: 17
    Position on Chromosome: 15239591
    Alleles of this Variant: C/G;T

rs104894623 in PMP22 gene and Charcot-Marie-Tooth Disease, Demyelinating, Type 1e PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 10330345 1999 A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

PMID 12578939 2003 Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.

PMID 15099592 2004 A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.

rs104894623 in PMP22 gene and Hereditary liability to pressure palsies PMID 12796555 2003 HNPP due to a novel missense mutation of the PMP22 gene.

PMID 9748013 1998 A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts.

PMID 15205993 2004 A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.