Variant: rs104894078 

    present in Gene: GDAP1
    present in Chromosome: 8
    Position on Chromosome: 74360184
    Alleles of this Variant: C/T

rs104894078 in GDAP1 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K PMID 28244113 2017 Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

PMID 22206013 2011 The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PMID 26525999 2016 GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

PMID 15772096 2005 GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

PMID 20685671 2010 The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

rs104894078 in GDAP1 gene and CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) PMID 14561495 2003 Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.

PMID 12601710 2003 CMT4A: identification of a Hispanic GDAP1 founder mutation.

PMID 18021315 2008 Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.

PMID 22971097 2012 A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.

PMID 21890626 2011 Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells.

PMID 21753178 2011 Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.

PMID 15805163 2005 Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

PMID 21199105 2010 Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.

PMID 19782751 2009 GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.