Variant: rs1555205335 

    present in Gene: TRPV4
    present in Chromosome: 12
    Position on Chromosome: 109788404
    Alleles of this Variant: A/C

rs1555205335 in TRPV4 gene and Multiple congenital anomalies PMID 28898540 2017 Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

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

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

PMID 956253 1976 Parastremmatic dwarfism.

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

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

PMID 25900305 2015 Phenotypic variability of TRPV4 related neuropathies.

PMID 22791502 2012 TRPV4-associated skeletal dysplasias.

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

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

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

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

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

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

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

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 11891693 2002 Familial digital arthropathy-brachydactyly.

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

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

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

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

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

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