{{Rsnum
|rsid=61630004
|Gene=KRT85
|Chromosome=12
|position=52367173
|Orientation=plus
|GMAF=0.02663
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=KRT85
}}{{omim
|id=602767
|rsnum=61630004
|variant=0001
}}

{{ClinVar
|rsid=61630004
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=52760957
|CHROM=12
|GMAF=0.0266
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050160000000150516110100
|GENEINFO=KRT85:3891
|GENE_NAME=KRT85
|GENE_ID=3891
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.52760957C>T
|CLNSRC=Epithelial Biology; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=KRT85:c.233G>A; 602767.0001
|CLNSIG=5
|CLNCUI=C1865951
|CLNDBN=Ectodermal dysplasia, 'pure' hair-nail type; not provided
|Disease=Ectodermal dysplasia; not provided
|CLNACC=RCV000007238.1; RCV000056956.1
|Tags=RV;PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9734; 0.02663
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1865951:602032:69084
|COMMON=1
}}

{{GET Evidence
|gene=KRT85
|aa_change=Arg78His
|aa_change_short=R78H
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs61630004
|overall_frequency_n=456
|overall_frequency_d=10738
|overall_frequency=0.042466
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_familial=!
|qualitycomment_familial=Y
|in_omim=Y
|pph2_score=0.99
|nblosum100=1
|autoscore=4
|webscore=N
|n_web_uneval=5
|variant_evidence=0
|clinical_importance=0
|summary_short=Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect.
}}

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