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rs6661601

From SNPedia

Orientationplus
Stabilizedplus
Make rs6661601(A;A)
Make rs6661601(A;G)
Make rs6661601(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position153261034
GeneLOR
is asnp
is mentioned by
dbSNPrs6661601
ebirs6661601
HLIrs6661601
Exacrs6661601
Varsomers6661601
Maprs6661601
PheGenIrs6661601
hapmaprs6661601
1000 genomesrs6661601
hgdprs6661601
ensemblrs6661601
gopubmedrs6661601
geneviewrs6661601
scholarrs6661601
googlers6661601
pharmgkbrs6661601
gwascentralrs6661601
openSNPrs6661601
23andMers6661601
23andMe allrs6661601
SNP Nexus

SNPshotrs6661601
SNPdbers6661601
MSV3drs6661601
GWAS Ctlgrs6661601
GMAF0.225
Max Magnitude
Venter snp
Source plos
Gene LOR
allele G
frequency
sift
HuRef 1103675226484
Disease Association 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
LOR-S29G
aa_change Ser29Gly
aa_change_short S29G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.213646
summary