{{Rsnum
|rsid=121434440
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GNPAT
|position=231265355
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GNPAT
}}{{omim
|id=602744
|rsnum=121434440
|variant=0002
}}{{ClinVar
|rsid=121434440
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=231265355
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000a05000002110100
|GENEINFO=GNPAT:8443
|GENE_NAME=GNPAT
|GENE_ID=8443
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.231265355C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_014236.3:c.631C>T; 602744.0002
|CLNSIG=5
|CLNCUI=C1857242
|CLNDBN=Rhizomelic chondrodysplasia punctata type 2
|Disease=Rhizomelic chondrodysplasia punctata type 2
|CLNACC=RCV000007244.1
|Tags=PM;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1857242:222765:ORPHA177
}}