{{Rsnum
|rsid=77975504
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=TRPV4
|position=109792695
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TRPV4
}}{{omim
|id=605427
|rsnum=77975504
|variant=0003
}}{{ClinVar
|rsid=77975504
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=110230500
|CHROM=12
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050068000000000002110100
|GENEINFO=TRPV4:59341
|GENE_NAME=TRPV4
|GENE_ID=59341
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.110230500C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605427.0003
|CLNSIG=5
|CLNCUI=C0265280; C1868616
|CLNDBN=Spondylometaphyseal dysplasia, Kozlowski type; Parastremmatic dwarfism
|Disease=Spondylometaphyseal dysplasia; Parastremmatic dwarfism
|CLNACC=RCV000005282.1; RCV000005283.1
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0265280:184252:93314; C1868616:168400:2646
}}{{PMID Auto
|PMID=19232556
|Title=Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
|OA=1
}}