{{Rsnum
|rsid=60831116
|Gene=KRT14
|Chromosome=17
|position=41586781
|Orientation=minus
|GMAF=0.001837
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=KRT14
}}{{omim
|id=148066
|rsnum=60831116
|variant=0016
}}

{{ClinVar
|rsid=60831116
|Reversed=1
|FwdREF=C
|FwdALT=A,T
|REF=G
|ALT=A,T
|RSPOS=39743033
|CHROM=17
|GMAF=0.0018
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050160000000000016110100
|GENEINFO=KRT14:3861
|GENE_NAME=KRT14
|GENE_ID=3861
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000017.10:g.39743033G>T
|CLNSRC=Epithelial Biology; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=KRT14:c.54C>A; 148066.0016
|CLNSIG=5
|CLNCUI=C0406778
|CLNDBN=Dermatopathia pigmentosa reticularis; not provided
|Disease=Dermatopathia pigmentosa reticularis; not provided
|CLNACC=RCV000015731.24; RCV000056744.1
|Tags=RV;PM;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9982; 0.001837; .
|CLNDSDB=MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0406778:125595:239088003
|COMMON=1
}}

DERMATOPATHIA PIGMENTOSA RETICULARIS

Studying a family from the United States with the diagnosis of dermatopathia pigmentosa reticularis (DPR; 125595), first reported by Heimer et al. (1992), Lugassy et al. (2006) demonstrated a heterozygous C-to-A transversion at cDNA position 54 of KRT14, resulting in the nonsense mutation cys 18 to ter (C18X).

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}