{{Rsnum
|rsid=267607143
|Chromosome=12
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=TRPV4
|position=109798823
|Gene_s=TRPV4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=A
|CHROM=12
|CLNACC=RCV000005289.1; RCV000005290.1; RCV000005291.1
|CLNALLE=1
|CLNDBN=Distal spinal muscular atrophy, congenital nonprogressive; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease type 2C
|CLNDSDB=MedGen:OMIM; MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen:OMIM
|CLNDSDBID=C1838492:600175; C0751335:181405:230248006; NBK1285:C2079540:606071
|CLNHGVS=NC_000012.11:g.110236628G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605427.0008
|Disease=Distal spinal muscular atrophy; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease type 2C
|FwdALT=T
|FwdREF=C
|GENEINFO=TRPV4:59341
|GENE_ID=59341
|GENE_NAME=TRPV4
|REF=G
|RSPOS=110236628
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267607143
}}