Variant: rs267607145 

    present in Gene: TRPV4
    present in Chromosome: 12
    Position on Chromosome: 109798820
    Alleles of this Variant: G/A;T

rs267607145 in TRPV4 gene and HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) PMID 20037587 2010 Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

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

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

PMID 24789864 2014 Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

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

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

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

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

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

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

rs267607145 in TRPV4 gene and Scapuloperoneal Form of Spinal Muscular Atrophy PMID 20037587 2010 Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

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