Gene: TRPV4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 GeneticVariation CLINVAR Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. 24789864

2014
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 GeneticVariation CLINVAR Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953

2012
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 GeneticVariation CLINVAR Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 20037586

2010
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 GeneticVariation CLINVAR Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 20037588

2010