{{Rsnum
|rsid=281875319
|Chromosome=17
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PYCR1
|position=81934380
|Gene_s=PYCR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=17
|CLNACC=RCV000022744.22; RCV000059739.1
|CLNALLE=1
|CLNDBN=Autosomal recessive cutis laxa type 3B; not provided
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN120648:614438:2962
|CLNHGVS=NC_000017.10:g.79892256C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNSRCID=179035.0012; VAR_067600
|Disease=Autosomal recessive cutis laxa type 3B; not provided
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=79892256
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD
|VC=SNV
|VP=0x050368000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=281875319
|GENEINFO=PYCR1:5831
|GENE_ID=5831
|GENE_NAME=PYCR1
}}{{PMID Auto
|PMID=22052856
|Title=Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
}}