APOA1 apolipoprotein A1

Information
Symbol
APOA1
Type
protein-coding
Description
apolipoprotein A1
Entrez Gene ID
335
Genome
hg19
Position
chr11:116,706,467-116,708,330
Genome
hg38
Position
chr11:116,835,751-116,837,614
MIM
107680 OMIM
HGNC
HGNC:600 HGNC
Ensembl
ENSG00000118137 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 52
Likely pathogenic 0 8
Benign 0 30
Likely benign 0 188
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 276
Ranking
ClinVar
0
0
128
372
42
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 AMYLD3
SYNONYM HPALP2
SYNONYM apo(a)
MIM 107680 OMIM
HGNC HGNC:600 HGNC
Ensembl ENSG00000118137 Ensembl
AllianceGenome HGNC:600
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000236850.5 hg38 chr11 116,835,751 116,837,622 1,872
ENST00000375320.5 hg38 chr11 116,835,751 116,837,586 1,836
ENST00000375323.5 hg38 chr11 116,835,751 116,837,614 1,864
ENST00000375329.6 hg38 chr11 116,835,751 116,837,610 1,860
ENST00000359492.6 hg38 chr11 116,835,751 116,837,609 1,859
ENST00000375320.5 hg19 chr11 116,706,467 116,708,302 1,836
ENST00000359492.6 hg19 chr11 116,706,467 116,708,325 1,859
ENST00000375329.6 hg19 chr11 116,706,467 116,708,326 1,860
ENST00000375323.5 hg19 chr11 116,706,467 116,708,330 1,864
ENST00000236850.5 hg19 chr11 116,706,467 116,708,338 1,872
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