{{Rsnum
|rsid=398122804
|Chromosome=3
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=CSTA
|position=122337545
|Gene_s=CSTA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=3
|CLNACC=RCV000022773.21
|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.122056392A>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=184600.0001
|Disease=Exfoliative ichthyosis
|FwdALT=T
|FwdREF=A
|GENEINFO=CSTA:1475
|GENE_ID=1475
|GENE_NAME=CSTA
|REF=A
|RSPOS=122056392
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=398122804
}}