Variant: rs267607144 

    present in Gene: TRPV4
    present in Chromosome: 12
    Position on Chromosome: 109800665
    Alleles of this Variant: C/T

rs267607144 in TRPV4 gene and Congenital clubfoot 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 20037586 2010 Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

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

rs267607144 in TRPV4 gene and HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) PMID 20037586 2010 Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

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

PMID 25900305 2015 Phenotypic variability of TRPV4 related neuropathies.

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

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

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

PMID 24575025 2014 Essential Tremor in a Charcot-Marie-Tooth Type 2C Kindred Does Not Segregate with the TRPV4 R269H Mutation.

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

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

PMID 21336783 2011 Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

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

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

rs267607144 in TRPV4 gene and Multiple congenital anomalies PMID 22791502 2012 TRPV4-associated skeletal dysplasias.

PMID 4056805 1985 A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.

PMID 25900305 2015 Phenotypic variability of TRPV4 related neuropathies.

PMID 20460441 2010 Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

PMID 20425821 2010 Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

PMID 22851605 2012 Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

PMID 11891693 2002 Familial digital arthropathy-brachydactyly.

PMID 27330106 2016 Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.

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

PMID 20577006 2010 Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

PMID 19232556 2009 Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

PMID 28898540 2017 Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

PMID 1520078 1992 A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features.

PMID 14755468 2004 Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.

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

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

PMID 20503319 2010 Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

PMID 26249260 2015 A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

PMID 18587396 2008 Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

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

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

PMID 24677493 2014 Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

PMID 21964574 2011 Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

PMID 956253 1976 Parastremmatic dwarfism.

rs267607144 in TRPV4 gene and SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) PMID 22526352 2012 TRPV4 mutations in children with congenital distal spinal muscular atrophy.

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

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

rs267607144 in TRPV4 gene and Scoliosis, unspecified PMID 24789864 2014 Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

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

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

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

rs267607144 in TRPV4 gene and Vocal Cord Paralysis 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 24789864 2014 Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

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