{{Rsnum
|rsid=397514683
|Chromosome=11
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=EFEMP2
|position=65869905
|Gene_s=EFEMP2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=11
|CLNACC=RCV000034874.2
|CLNALLE=1
|CLNDBN=Autosomal recessive cutis laxa type 1B
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK54467:CN120647:614437:90349
|CLNHGVS=NC_000011.9:g.65637376G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=604633.0010
|Disease=Autosomal recessive cutis laxa type 1B
|FwdALT=T
|FwdREF=C
|GENEINFO=EFEMP2:30008
|GENE_ID=30008
|GENE_NAME=EFEMP2
|REF=G
|RSPOS=65637376
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514683
}}