ABCB11 ATP binding cassette subfamily B member 11

Information
Symbol
ABCB11
Type
protein-coding
Description
ATP binding cassette subfamily B member 11
Entrez Gene ID
8647
Genome
hg19
Position
chr2:169,777,291-169,887,834
Genome
hg38
Position
chr2:168,920,781-169,031,324
MIM
603201 OMIM
HGNC
HGNC:42 HGNC
Ensembl
ENSG00000073734 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 332
Likely pathogenic 0 234
Benign 0 268
Likely benign 0 1,524
Benign; other 0 2
Conflicting classifications of pathogenicity 0 236
Uncertain significance 0 512
Ranking
ClinVar
0
0
378
2,366
24
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 ABC16
SYNONYM BRIC2
SYNONYM BSEP
SYNONYM PFIC-2
SYNONYM PFIC2
SYNONYM PGY4
SYNONYM SPGP
MIM 603201 OMIM
HGNC HGNC:42 HGNC
Ensembl ENSG00000073734 Ensembl
AllianceGenome HGNC:42
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000650372.1 hg38 chr2 168,920,781 169,031,324 110,544
ENST00000650372.1 hg19 chr2 169,777,291 169,887,834 110,544
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