Variant: rs77975504 

    present in Gene: TRPV4
    present in Chromosome: 12
    Position on Chromosome: 109792695
    Alleles of this Variant: C/T

rs77975504 in TRPV4 gene and HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) PMID 20577006 2010 Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

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

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

PMID 21573172 2011 Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations.

PMID 21658220 2011 TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

rs77975504 in TRPV4 gene and Parastremmatic dwarfism PMID 20503319 2010 Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

rs77975504 in TRPV4 gene and Spondylometaphyseal dysplasia, Kozlowski type PMID 22702953 2012 Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.

PMID 19232556 2009 Mutation analysis in six out of six patients with SMDK demonstrated heterozygosity for missense mutations in TRPV4, and one mutation, predicting a R594H substitution, was recurrent in four patients.

PMID 20577006 2010 In SMDK, a recurrent R594H mutation was identified in 12 subjects and seven novel mutations.