{{Rsnum
|rsid=387906689
|Chromosome=3
|position=122341526
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CSTA
|Gene_s=CSTA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=3
|CLNACC=RCV000022774.16
|CLNALLE=1
|CLNDBN=Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1842797:607936:289586
|CLNHGVS=NC_000003.11:g.122060373C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=184600.0002
|Disease=Exfoliative ichthyosis
|FwdALT=T
|FwdREF=C
|REF=C
|RSPOS=122060373
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906689
|GENEINFO=CSTA:1475
|GENE_ID=1475
|GENE_NAME=CSTA
}}