{{Rsnum
|rsid=193302865
|Chromosome=11
|Orientation=minus
|geno1=(-;-)
|geno2=(-;CCGC)
|geno3=(CCGC;CCGC)
|Gene=EFEMP2
|position=65867957
|Gene_s=EFEMP2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193302865
|Reversed=1
|FwdALT=CCGC
|REF=A
|ALT=AGCGG
|RSPOS=65635428
|CHROM=11
|dbSNPBuildID=135
|SSR=0
|SAO=0
|VP=0x050160000000000002110200
|GENEINFO=EFEMP2:30008
|GENE_NAME=EFEMP2
|GENE_ID=30008
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.65635429_65635432dupGCGG
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK54467; 604633.0003
|CLNSIG=5
|CLNCUI=CN120647
|CLNDBN=Autosomal recessive cutis laxa type 1B; Autosomal recessive cutis laxa type IA
|Disease=Autosomal recessive cutis laxa type 1B; Autosomal recessive cutis laxa type IA
|CLNACC=RCV000005758.1; RCV000032265.1
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK54467:CN120647:614437:90349; NBK5201:NBK54467:CN033664:219100:90349:59451000
}}