{{Rsnum
|rsid=6661601
|Gene=LOR
|Chromosome=1
|position=153261034
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.225
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=LOR
}}{{Venter SNP
|rsid=6661601
|allele=G
|frequency=
|uid=1103675226484
|type=homozygous_SNP
|hugo=LOR
|ensembl gene=ENSG00000203782
|ensembl transcript=ENST00000368742
|sift=
|disease=Defects in LOR are the cause of loricrin keratoderma (LK) (MIM:604117). LK is an ichthyotic variant of Vohwinkel syndrome (VS) characterized by progressive symmetric erythrokeratoderma or congenital ichthyosiform erythroderma born as a collodion baby. Common clininal features include hyperkeratosis of the palms and soles with digital constriction. In all form of LK, the defects are caused by single allele mutations and are caused by nucleotide insertions. These frameshift mutations produce longer mutant proteins with a C-terminus rich in Arg containing potential bipartite NLSs. The mutant loricrin is nuclear.
}}

{{GET Evidence
|gene=LOR
|aa_change=Ser29Gly
|aa_change_short=S29G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6661601
|overall_frequency_n=2051
|overall_frequency_d=9600
|overall_frequency=0.213646
|n_genomes=10
|n_genomes_annotated=0
|n_haplomes=11
|n_articles=0
|n_articles_annotated=0
|nblosum100=2
|autoscore=0
|webscore=N
}}
{{on chip | 23andMe v3}}
{{on chip | HumanOmni1Quad}}