LBR lamin B receptor

Information
Symbol
LBR
Type
protein-coding
Description
lamin B receptor
Entrez Gene ID
3930
Genome
hg19
Position
chr1:225,589,204-225,615,740
Genome
hg38
Position
chr1:225,401,502-225,428,038
MIM
600024 OMIM
HGNC
HGNC:6518 HGNC
Ensembl
ENSG00000143815 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 34
Likely pathogenic 0 8
Benign 16 86
Likely benign 0 194
Conflicting classifications of pathogenicity 0 80
Uncertain significance 0 354
Ranking
ClinVar
0
0
104
536
18
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 C14SR
SYNONYM DHCR14B
SYNONYM LMN2R
SYNONYM PHA
SYNONYM PHASK
SYNONYM TDRD18
MIM 600024 OMIM
HGNC HGNC:6518 HGNC
Ensembl ENSG00000143815 Ensembl
AllianceGenome HGNC:6518
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000272163.9 hg38 chr1 225,401,502 225,428,038 26,537
ENST00000338179.6 hg38 chr1 225,401,503 225,428,855 27,353
ENST00000272163.9 hg19 chr1 225,589,204 225,615,740 26,537
ENST00000338179.6 hg19 chr1 225,589,205 225,616,557 27,353
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