Variant: rs387906905 

    present in Gene: TRPV4
    present in Chromosome: 12
    Position on Chromosome: 109798819
    Alleles of this Variant: C/T

rs387906905 in TRPV4 gene and Gait abnormality PMID 21288981 2011 TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

rs387906905 in TRPV4 gene and HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) PMID 24789864 2014 Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

PMID 25256292 2014 TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂.

PMID 21115951 2010 CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.

PMID 24319099 2014 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

PMID 22702953 2012 Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.

PMID 20037588 2010 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

PMID 21454511 2011 Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.

PMID 20037587 2010 Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

PMID 21288981 2011 The R316H is a novel de novo mutation found in a patient with CMT2C phenotype.

PMID 20037586 2010 Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

rs387906905 in TRPV4 gene and Muscle Weakness Lower Limb PMID 21288981 2011 TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

rs387906905 in TRPV4 gene and Muscle hypotonia PMID 21288981 2011 TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

rs387906905 in TRPV4 gene and Reflex, Abnormal PMID 21288981 2011 TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.