{{Rsnum
|rsid=193302867
|Chromosome=11
|position=65870650
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=EFEMP2
|Gene_s=EFEMP2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=T
|CHROM=11
|CLNACC=RCV000032269.1; RCV000033125.1
|CLNALLE=1
|CLNDBN=Autosomal recessive cutis laxa type IA; Autosomal recessive cutis laxa type 1B
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK5201:NBK54467:CN033664:219100:90349:59451000; NBK54467:CN120647:614437:90349
|CLNHGVS=NC_000011.9:g.65638121C>T
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK54467; 604633.0005
|Disease=Autosomal recessive cutis laxa type IA; Autosomal recessive cutis laxa type 1B
|FwdALT=A
|FwdREF=G
|GENEINFO=EFEMP2:30008
|GENE_ID=30008
|GENE_NAME=EFEMP2
|REF=C
|RSPOS=65638121
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160000000000002110100
|WGT=0
|dbSNPBuildID=135
|rsid=193302867
}}