Variant: rs104894161 

    present in Gene: EGR2
    present in Chromosome: 10
    Position on Chromosome: 62813563
    Alleles of this Variant: G/A

rs104894161 in EGR2 gene and Charcot-Marie-Tooth disease, Type 1D (disorder) PMID 9537424 1998 Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

PMID 15241803 2004 Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

PMID 15947997 2005 Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

PMID 11239949 2001 A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.

PMID 10502832 1999 A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.

PMID 12736090 2003 Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.

PMID 10762521 2000 Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

rs104894161 in EGR2 gene and Dejerine-Sottas Disease (disorder) PMID 10371530 1999 A de novo missense mutation (Arg359Trp) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS.

rs104894161 in EGR2 gene and Hereditary Motor and Sensory Neuropathy Type I PMID 10371530 1999 Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

PMID 16198564 2005 Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.

PMID 11523566 2001 EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.

PMID 15947997 2005 Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

PMID 27159987 2016 EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.

PMID 10369870 1999 Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

PMID 17717711 2007 Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.