{{Rsnum
|rsid=193302870
|Chromosome=11
|position=65870151
|Orientation=minus
|geno1=(-;-)
|geno2=(-;C)
|geno3=(C;C)
|Gene=EFEMP2
|Gene_s=EFEMP2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=T
|CHROM=11
|CLNACC=RCV000032271.1
|CLNALLE=1
|CLNDBN=Autosomal recessive cutis laxa type IA
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK5201:NBK54467:CN033664:219100:90349:59451000
|CLNHGVS=NC_000011.9:g.65637622delG
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK54467
|Disease=Autosomal recessive cutis laxa type IA
|FwdREF=C
|GENEINFO=EFEMP2:30008
|GENE_ID=30008
|GENE_NAME=EFEMP2
|REF=TG
|RSPOS=65637621
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050160000000000002110200
|WGT=0
|dbSNPBuildID=135
|rsid=193302870
}}