LRP1 LDL receptor related protein 1

Information
Symbol
LRP1
Type
protein-coding
Description
LDL receptor related protein 1
Entrez Gene ID
4035
Genome
hg19
Position
chr12:57,522,266-57,607,144
Genome
hg38
Position
chr12:57,128,483-57,213,361
MIM
107770 OMIM
HGNC
HGNC:6692 HGNC
Ensembl
ENSG00000123384 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 10
Likely pathogenic 0 2
Benign 0 212
Likely benign 0 230
Conflicting classifications of pathogenicity 0 8
not provided 0 4
Uncertain significance 0 394
Ranking
ClinVar
0
0
90
718
12
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 A2MR
SYNONYM APOER
SYNONYM APR
SYNONYM CD91
SYNONYM DDH3
SYNONYM IGFBP-3R
SYNONYM IGFBP3R
SYNONYM IGFBP3R1
SYNONYM KPA
SYNONYM LRP
SYNONYM LRP1A
SYNONYM TGFBR5
MIM 107770 OMIM
HGNC HGNC:6692 HGNC
Ensembl ENSG00000123384 Ensembl
AllianceGenome HGNC:6692
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000554174.1 hg38 chr12 57,128,909 57,155,593 26,685
ENST00000243077.8 hg38 chr12 57,128,483 57,213,361 84,879
ENST00000338962.8 hg38 chr12 57,128,716 57,150,059 21,344
ENST00000553277.5 hg38 chr12 57,128,493 57,150,059 21,567
ENST00000243077.8 hg19 chr12 57,522,266 57,607,144 84,879
ENST00000553277.5 hg19 chr12 57,522,276 57,543,842 21,567
ENST00000338962.8 hg19 chr12 57,522,499 57,543,842 21,344
ENST00000554174.1 hg19 chr12 57,522,692 57,549,376 26,685
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