{{Rsnum
|rsid=2852464
|Gene=KRT83
|Chromosome=12
|position=52316937
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.3407
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=KRT83
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 100.0 | 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=2852464
|allele=C
|frequency=
|uid=1103649442133
|type=homozygous_SNP
|hugo=KRT83
|ensembl gene=ENSG00000170523
|ensembl transcript=ENST00000293670
|sift=AFFECT FUNCTION
|disease=Defects in KRTHB3 are a cause of Monilethrix (MIM:158000). Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.
}}

{{GET Evidence
|gene=KRT83
|aa_change=Ile279Met
|aa_change_short=I279M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2852464
|overall_frequency_n=4405
|overall_frequency_d=10758
|overall_frequency=0.409463
|n_genomes=37
|n_genomes_annotated=0
|n_haplomes=45
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-1
|autoscore=2
|n_web_uneval=1
}}

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