RS387906904 TRPV4
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What This Variant Does
"CLNSIG=5
Associated Conditions
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy
distal hereditary motor
autosomal dominant 8
Neuromuscular disease
Skeletal dysplasia
autosomal dominant
Charcot-Marie-Tooth disease
Spondylometaphyseal dysplasia
Kozlowski type
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy
distal hereditary motor
autosomal dominant 8
Neuromuscular disease
Other Variants in TRPV4