APOB apolipoprotein B
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 | |
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0 |
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0 |
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1,320 |
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4,550 |
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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
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MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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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 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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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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