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Gene entry

TRPV4

transient receptor potential cation channel subfamily V member 4

Chromosome
12
Cytoband
12q24.11
Variants (rsID)
26

TRPV4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.11). Its official name is “transient receptor potential cation channel subfamily V member 4”. The reference table lists 26 variants (rsID) for this gene.

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Clinically classified variants

17 reference-table entries with clinical significance.

  • rs141295418Benignsingle nucleotide variantSpondylometaphyseal dysplasia, Kozlowski type|Brachyrachia (short spine dysplasia)|Autosomal dominant congenital benign spinal muscular atrophy|Scapuloperoneal spinal muscular atrophy|Metatropic dysplasia|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease
  • rs143502097Benignsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2C
  • rs187864727Benignsingle nucleotide variantNeuromuscular disease|Skeletal dysplasia|Autosomal dominant congenital benign spinal muscular atrophy|Brachyrachia (short spine dysplasia)|Spondylometaphyseal dysplasia, Kozlowski type|Metatropic dysplasia|Scapuloperoneal spinal muscular atrophy|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2C|Connective tissue disorder
  • rs201241092Benignsingle nucleotide variantScapuloperoneal spinal muscular atrophy|Autosomal dominant congenital benign spinal muscular atrophy|Brachyrachia (short spine dysplasia)|Metatropic dysplasia|Spondylometaphyseal dysplasia, Kozlowski type|Charcot-Marie-Tooth disease axonal type 2C
  • rs371733585Benignsingle nucleotide variantMetatropic dysplasia|Scapuloperoneal spinal muscular atrophy|Spondylometaphyseal dysplasia, Kozlowski type|Autosomal dominant congenital benign spinal muscular atrophy|Brachyrachia (short spine dysplasia)|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease|Connective tissue disorder
  • rs3742037Benignsingle nucleotide variantSpondylometaphyseal dysplasia, Kozlowski type|Brachyrachia (short spine dysplasia)|Scapuloperoneal spinal muscular atrophy|Autosomal dominant congenital benign spinal muscular atrophy|Metatropic dysplasia|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease
  • rs56177950Benignsingle nucleotide variantSpondylometaphyseal dysplasia, Kozlowski type|Metatropic dysplasia|Autosomal dominant congenital benign spinal muscular atrophy|Scapuloperoneal spinal muscular atrophy|Brachyrachia (short spine dysplasia)|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease|Connective tissue disorder
  • rs201815805Conflicting interpretationssingle nucleotide variantAutosomal dominant congenital benign spinal muscular atrophy|Scapuloperoneal spinal muscular atrophy|Metatropic dysplasia|Brachyrachia (short spine dysplasia)|Spondylometaphyseal dysplasia, Kozlowski type|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease
  • rs201927283Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2C
  • rs541606391Conflicting interpretationsDeletionCharcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease
  • rs121912633Pathogenicsingle nucleotide variantBrachyrachia (short spine dysplasia)|Skeletal dysplasia|Skeletal dysplasia|Neuromuscular disease|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease
  • rs267607143Pathogenicsingle nucleotide variantScapuloperoneal spinal muscular atrophy|Charcot-Marie-Tooth disease axonal type 2C|Autosomal dominant congenital benign spinal muscular atrophy|Neuromuscular disease|Autosomal dominant distal hereditary motor neuropathy
  • rs267607144Pathogenicsingle nucleotide variantAutosomal dominant congenital benign spinal muscular atrophy|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease|Neuromuscular disease|Inborn genetic diseases|11 conditions
  • rs267607145Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2C|Scapuloperoneal spinal muscular atrophy|Neuromuscular disease|Charcot-Marie-Tooth disease|Autosomal dominant distal hereditary motor neuropathy|TRPV4-related disorders
  • rs397514494Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2C|Neuromuscular disease|Autosomal dominant congenital benign spinal muscular atrophy|Inborn genetic diseases
  • rs200497189Uncertain significancesingle nucleotide variantInborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2C
  • rs201132615Uncertain significancesingle nucleotide variantInborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2C|11 conditions

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.