Variant: rs864309503 

    present in Gene: MORC2
    present in Chromosome: 22
    Position on Chromosome: 30941503
    Alleles of this Variant: G/A

rs864309503 in MORC2 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z PMID 26497905 2016 Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

PMID 26659848 2016 MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

PMID 27105987 2016 A mathematical model for the spread of west nile virus in migratory and resident birds.

PMID 28581500 2017 Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.

PMID 26912637 2016 Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.

PMID 29440755 2018 Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms.

rs864309503 in MORC2 gene and Multiple congenital anomalies PMID 27329773 2016 MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.

PMID 28581500 2017 Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.

PMID 26497905 2016 Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

PMID 28334961 2017 High intra-familiar clinical variability in MORC2 mutated CMT2 patients.

PMID 28402445 2017 De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

PMID 26659848 2016 MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

PMID 27105897 2016 Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.

PMID 27794525 2016 MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.

PMID 26912637 2016 Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.

PMID 28771897 2017 Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.