LORICRIN loricrin cornified envelope precursor protein

Information
Symbol
LORICRIN
Type
protein-coding
Description
loricrin cornified envelope precursor protein
Entrez Gene ID
4014
Genome
hg19
Position
chr1:153,232,163-153,234,600
Genome
hg38
Position
chr1:153,259,687-153,262,124
MIM
152445 OMIM
HGNC
HGNC:6663 HGNC
Ensembl
ENSG00000203782 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 8
Benign 2 24
Likely benign 0 22
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 88
Ranking
ClinVar
0
0
18
126
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM LOR
MIM 152445 OMIM
HGNC HGNC:6663 HGNC
Ensembl ENSG00000203782 Ensembl
AllianceGenome HGNC:6663
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368742.4 hg38 chr1 153,259,687 153,262,124 2,438
ENST00000368742.4 hg19 chr1 153,232,163 153,234,600 2,438
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