APBB1 amyloid beta precursor protein binding family B member 1

Information
Symbol
APBB1
Type
protein-coding
Description
amyloid beta precursor protein binding family B member 1
Entrez Gene ID
322
Genome
hg19
Position
chr11:6,416,355-6,440,324
Genome
hg38
Position
chr11:6,395,125-6,419,094
MIM
602709 OMIM
HGNC
HGNC:581 HGNC
Ensembl
ENSG00000166313 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 16
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 58
Ranking
ClinVar
0
0
0
84
0
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 :
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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 FE65
SYNONYM MGC:9072
SYNONYM RIR
MIM 602709 OMIM
HGNC HGNC:581 HGNC
Ensembl ENSG00000166313 Ensembl
AllianceGenome HGNC:581
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000608394.5 hg38 chr11 6,395,143 6,405,417 10,275
ENST00000608704.5 hg38 chr11 6,395,125 6,405,660 10,536
ENST00000608655.6 hg38 chr11 6,395,125 6,404,933 9,809
ENST00000608645.5 hg38 chr11 6,395,304 6,405,415 10,112
ENST00000530885.5 hg38 chr11 6,395,468 6,404,898 9,431
ENST00000311051.7 hg38 chr11 6,395,125 6,419,414 24,290
ENST00000529519.5 hg38 chr11 6,395,163 6,405,441 10,279
ENST00000609331.5 hg38 chr11 6,395,430 6,404,664 9,235
ENST00000609360.6 hg38 chr11 6,395,125 6,419,094 23,970
ENST00000299402.10 hg38 chr11 6,395,125 6,419,070 23,946
ENST00000299402.10 hg19 chr11 6,416,355 6,440,300 23,946
ENST00000608645.5 hg19 chr11 6,416,534 6,426,645 10,112
ENST00000311051.7 hg19 chr11 6,416,355 6,440,644 24,290
ENST00000608394.5 hg19 chr11 6,416,373 6,426,647 10,275
ENST00000529519.5 hg19 chr11 6,416,393 6,426,671 10,279
ENST00000530885.5 hg19 chr11 6,416,698 6,426,128 9,431
ENST00000608655.6 hg19 chr11 6,416,355 6,426,163 9,809
ENST00000608704.5 hg19 chr11 6,416,355 6,426,890 10,536
ENST00000609331.5 hg19 chr11 6,416,660 6,425,894 9,235
ENST00000609360.6 hg19 chr11 6,416,355 6,440,324 23,970
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