{{Rsnum
|rsid=121918376
|Gene=PYCR1
|Chromosome=17
|position=81935111
|Orientation=minus
|GMAF=0.0
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=PYCR1
}}{{omim
|id=179035
|rsnum=121918376
|variant=0007
}}{{ClinVar
|rsid=121918376
|Reversed=1
|FwdREF=C
|FwdALT=G,T
|REF=G
|ALT=A,C
|RSPOS=79892987
|CHROM=17
|GMAF=0
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000016110100
|GENEINFO=PYCR1:5831
|GENE_NAME=PYCR1
|GENE_ID=5831
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000017.10:g.79892987G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=179035.0007
|CLNSIG=5
|CLNCUI=C2751987
|CLNDBN=Autosomal recessive cutis laxa type 2B
|Disease=Autosomal recessive cutis laxa type 2B
|CLNACC=RCV000014083.22
|Tags=RV;PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=1; 0; .
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2751987:612940:90350
|COMMON=0
}}