Variant: rs104894617 

    present in Gene: PMP22
    present in Chromosome: 17
    Position on Chromosome: 15260681
    Alleles of this Variant: A/G

rs104894617 in PMP22 gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 8510709 1993 Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

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

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

PMID 8655153 1996 A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.

PMID 8777804 1995 [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].

PMID 11140841 2000 Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.

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

PMID 10489052 1999 Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.

PMID 10737979 2000 Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

PMID 12497641 2003 Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

PMID 1303281 1992 Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

PMID 9040744 1997 A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.

PMID 8615087 1995 Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations.

PMID 8252046 1993 Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

rs104894617 in PMP22 gene and Dejerine-Sottas Disease (disorder) PMID 8995589 1997 Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.

PMID 7675244 1995 Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.

PMID 12090401 2002 Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.

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

PMID 9544841 1998 Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.

PMID 9004143 1996 Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

PMID 8275092 1993 Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

PMID 10663978 2000 Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.

PMID 9452053 1998 Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.

PMID 9585367 1998 "Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible ""hot spot"" on Ser72."

PMID 8252046 1993 Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

PMID 10211478 1999 Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.

PMID 7728152 1995 Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

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 9055797 1997 Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.

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

rs104894617 in PMP22 gene and Hereditary Motor and Sensory Neuropathy Type I PMID 26102530 2015 Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.

PMID 9425015 1998 Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.

PMID 21827951 2011 Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease.

PMID 18795802 2008 The peripheral neuropathy-linked Trembler and Trembler-J mutant forms of peripheral myelin protein 22 are folding-destabilized.

PMID 23689413 2013 Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E).

PMID 12090404 2002 Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A.

PMID 6313869 1983 Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination.

PMID 1303281 1992 Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

PMID 25385046 2014 Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease.

PMID 8995589 1997 Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.