{{Rsnum
|rsid=7959052
|Gene=KRT4
|Chromosome=12
|position=52811973
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2328
|Gene_s=KRT4,LOC100288809
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 1.8 | 35.4 | 62.8
| HCB | 2.2 | 11.7 | 86.1
| JPT | 0.0 | 9.7 | 90.3
| YRI | 38.8 | 48.3 | 12.9
| ASW | 33.3 | 49.1 | 17.5
| CHB | 2.2 | 11.7 | 86.1
| CHD | 0.9 | 22.9 | 76.1
| GIH | 5.0 | 29.7 | 65.3
| LWK | 34.3 | 49.1 | 16.7
| MEX | 1.7 | 17.2 | 81.0
| MKK | 19.2 | 50.6 | 30.1
| TSI | 1.0 | 26.5 | 72.5
| HapMapRevision=28
}}{{Venter SNP
|rsid=7959052
|allele=C
|frequency=0.233
|uid=1103649443385
|type=heterozygous_SNP
|hugo=KRT4
|ensembl gene=ENSG00000170477
|ensembl transcript=ENST00000293774
|sift=AFFECT FUNCTION
|disease=Defects in KRT4 are a cause of white sponge nevus of cannon (WSN) (MIM:193900). WSN is a rare autosomal dominant disorder which predominantly affects noncornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved.
}}

{{GET Evidence
|gene=KRT4
|aa_change=Gln230Arg
|aa_change_short=Q230R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7959052
|overall_frequency_n=3072
|overall_frequency_d=10442
|overall_frequency=0.294197
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=36
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}