{{Rsnum
|rsid=119489101
|Chromosome=11
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=EFEMP2
|position=65871355
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=EFEMP2
}}{{omim
|id=604633
|rsnum=119489101
|variant=0001
}}{{ClinVar
|rsid=119489101
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=65638826
|CHROM=11
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=EFEMP2:30008
|GENE_NAME=EFEMP2
|GENE_ID=30008
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.65638826C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK54467; 604633.0001
|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=RCV000005756.1; RCV000032268.1
|Tags=RV;PM;S3D;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
}}