{{Rsnum
|rsid = 28940268
|Gene = ABCA12
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=2
|position=214986563
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ABCA12
}}{{omim
|desc=ICHTHYOSIS, LAMELLAR 2
|id=607800
|rsnum=28940268
|variant=0001
}}
{{ neighbor
| rsid = 28940269
| distance = 3
}}{{ClinVar
|rsid=28940268
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=215851287
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=ABCA12:26154
|GENE_NAME=ABCA12
|GENE_ID=26154
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.215851287C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607800.0001
|CLNSIG=5
|CLNCUI=C1832550
|CLNDBN=Autosomal recessive congenital ichthyosis 4A
|Disease=Autosomal recessive congenital ichthyosis 4A
|CLNACC=RCV000002988.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1420:C1832550:601277:313
}}