APOB apolipoprotein B

Information
Symbol
APOB
Type
protein-coding
Description
apolipoprotein B
Entrez Gene ID
338
Genome
hg19
Position
chr2:21,224,301-21,266,945
Genome
hg38
Position
chr2:21,001,429-21,044,073
MIM
107730 OMIM
HGNC
HGNC:603 HGNC
Ensembl
ENSG00000084674 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 290
Likely pathogenic 0 114
Benign 76 279
Likely benign 0 2,936
Conflicting classifications of pathogenicity 0 1,242
no classifications from unflagged records 0 2
Uncertain significance 0 2,503
Ranking
ClinVar
0
0
1,320
4,550
60
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 FCHL2
SYNONYM FLDB
SYNONYM LDLCQ4
SYNONYM apoB-100
SYNONYM apoB-48
MIM 107730 OMIM
HGNC HGNC:603 HGNC
Ensembl ENSG00000084674 Ensembl
AllianceGenome HGNC:603
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000233242.5 hg38 chr2 21,001,429 21,044,073 42,645
ENST00000399256.4 hg38 chr2 21,024,170 21,043,962 19,793
ENST00000233242.5 hg19 chr2 21,224,301 21,266,945 42,645
ENST00000399256.4 hg19 chr2 21,247,042 21,266,834 19,793
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