{{Rsnum
|rsid=121918377
|Gene=PYCR1
|Chromosome=17
|position=81935110
|Orientation=minus
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PYCR1
}}{{omim
|id=179035
|rsnum=121918377
|variant=0008
}}{{ClinVar
|rsid=121918377
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=79892986
|CHROM=17
|GMAF=0.0009
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000016110100
|GENEINFO=PYCR1:5831
|GENE_NAME=PYCR1
|GENE_ID=5831
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.79892986C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=179035.0008
|CLNSIG=5
|CLNCUI=C2751987
|CLNDBN=Autosomal recessive cutis laxa type 2B
|Disease=Autosomal recessive cutis laxa type 2B
|CLNACC=RCV000014084.23
|Tags=RV;PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2751987:612940:90350
|COMMON=1
}}