LRP6 LDL receptor related protein 6

Information
Symbol
LRP6
Type
protein-coding
Description
LDL receptor related protein 6
Entrez Gene ID
4040
Genome
hg19
Position
chr12:12,268,959-12,419,978
Genome
hg38
Position
chr12:12,116,025-12,267,044
MIM
603507 OMIM
HGNC
HGNC:6698 HGNC
Ensembl
ENSG00000070018 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 84
Likely pathogenic 0 24
Benign 0 197
Likely benign 0 198
Conflicting classifications of pathogenicity 0 18
Uncertain significance 0 432
Ranking
ClinVar
0
0
70
823
30
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 ADCAD2
SYNONYM STHAG7
MIM 603507 OMIM
HGNC HGNC:6698 HGNC
Ensembl ENSG00000070018 Ensembl
AllianceGenome HGNC:6698
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000543091.1 hg38 chr12 12,121,093 12,266,769 145,677
ENST00000261349.9 hg38 chr12 12,116,025 12,267,044 151,020
ENST00000261349.9 hg19 chr12 12,268,959 12,419,978 151,020
ENST00000543091.1 hg19 chr12 12,274,027 12,419,703 145,677
Genome browser