Variant: rs119103267 

    present in Gene: MFN2
    present in Chromosome: 1
    Position on Chromosome: 12009641
    Alleles of this Variant: C/T

rs119103267 in MFN2 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A PMID 30158064 2019 MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue.

PMID 28414270 2017 Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.

PMID 26114802 2015 MFN2 deletion of exons 7 and 8: founder mutation in the UK population.

PMID 22492563 2012 MFN2 mutations cause compensatory mitochondrial DNA proliferation.

PMID 26085578 2015 Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

PMID 20008656 2009 Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

PMID 20350294 2010 MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

PMID 29358271 2018 Catalogue of inherited disorders found among the Irish Traveller population.

PMID 24126688 2013 Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

PMID 18458227 2008 Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

PMID 28251916 2017 Genetic heterogeneity of motor neuropathies.

rs119103267 in MFN2 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B PMID 26085578 2015 Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

rs119103267 in MFN2 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 28414270 2017 Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.

PMID 20008656 2009 Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

PMID 184582 1976 Giant cell tumor of soft parts. An ultrastructural study.

PMID 24126688 2013 Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

PMID 26085578 2015 Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

PMID 22492563 2012 MFN2 mutations cause compensatory mitochondrial DNA proliferation.

PMID 20350294 2010 MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

PMID 26114802 2015 MFN2 deletion of exons 7 and 8: founder mutation in the UK population.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.