{{Rsnum
|rsid=641615
|Gene=KRT5
|Chromosome=12
|position=52519125
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.253
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=KRT5
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 0.0 | 1.6 | 98.4
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=641615
|allele=T
|frequency=
|uid=1103649442596
|type=heterozygous_SNP
|hugo=KRT5
|ensembl gene=ENSG00000186081
|ensembl transcript=ENST00000252242
|sift=
|disease=Defects in KRT5 are the cause of epidermolysis bullosa simplex with mottled pigmentation (MP-EBS) (MIM:131960). MP-EBS is characterized by additional reticular hyperpigmentation.
}}

{{ neighbor
| rsid = 11170164
| distance = 759
}}{{ClinVar
|rsid=641615
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=52912909
|CHROM=12
|GMAF=0.2541
|dbSNPBuildID=83
|SSR=0
|SAO=0
|VP=0x050160000000150117100100
|GENEINFO=KRT5:3852
|GENE_NAME=KRT5
|GENE_ID=3852
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.52912909G>T
|CLNSIG=1
|Tags=RV;PM;SLO;VLD;G5;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.747; 0.253
|COMMON=1
|CLNACC=RCV000056634.1
|CLNDBN=not provided
|CLNSRC=Epithelial Biology
|CLNSRCID=KRT5:c.591C>A
|Disease=not provided
}}{{GET Evidence
|gene=KRT5
|aa_change=Asp197Glu
|aa_change_short=D197E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs641615
|overall_frequency_n=806
|overall_frequency_d=10750
|overall_frequency=0.0749767
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=26
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.005
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-2
|autoscore=3
|n_web_uneval=2
}}