{{Rsnum
|rsid=57959072
|Chromosome=12
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=KRT1
|position=52679885
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KRT1
}}{{omim
|id=139350
|rsnum=57959072
|variant=0007
}}{{ClinVar
|rsid=57959072
|Reversed=1
|FwdREF=T
|FwdALT=A,G
|REF=A
|ALT=C,T
|RSPOS=53073669
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=KRT1:3848
|GENE_NAME=KRT1
|GENE_ID=3848
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000012.11:g.53073669A>C; NC_000012.11:g.53073669A>T
|CLNSRC=Epithelial Biology; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=KRT1:c.464T>G; KRT1:c.464T>A; 139350.0007
|CLNSIG=5
|CLNCUI=C0079153
|CLNDBN=not provided; Bullous ichthyosiform erythroderma
|Disease=not provided; Bullous ichthyosiform erythroderma
|CLNACC=RCV000057082.1; RCV000017264.22; RCV000057081.1
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0079153:113800:312:254167000
}}