ABCB8 ATP binding cassette subfamily B member 8

Information
Symbol
ABCB8
Type
protein-coding
Description
ATP binding cassette subfamily B member 8
Entrez Gene ID
11194
Genome
hg19
Position
chr7:150,725,537-150,742,649
Genome
hg38
Position
chr7:151,028,450-151,045,562
MIM
605464 OMIM
HGNC
HGNC:49 HGNC
Ensembl
ENSG00000197150 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 16
Likely benign 0 10
Uncertain significance 0 84
Ranking
ClinVar
0
0
2
108
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 EST328128
SYNONYM M-ABC1
SYNONYM MABC1
SYNONYM MITOSUR
MIM 605464 OMIM
HGNC HGNC:49 HGNC
Ensembl ENSG00000197150 Ensembl
AllianceGenome HGNC:49
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000358849.9 hg38 chr7 151,028,450 151,047,782 19,333
ENST00000542328.5 hg38 chr7 151,028,422 151,047,782 19,361
ENST00000297504.10 hg38 chr7 151,028,450 151,045,562 17,113
ENST00000477719.5 hg38 chr7 151,028,464 151,037,524 9,061
ENST00000498578.5 hg38 chr7 151,028,462 151,045,563 17,102
ENST00000477092.5 hg38 chr7 151,028,467 151,037,570 9,104
ENST00000297504.10 hg19 chr7 150,725,537 150,742,649 17,113
ENST00000358849.9 hg19 chr7 150,725,537 150,744,869 19,333
ENST00000477092.5 hg19 chr7 150,725,554 150,734,657 9,104
ENST00000477719.5 hg19 chr7 150,725,551 150,734,611 9,061
ENST00000498578.5 hg19 chr7 150,725,549 150,742,650 17,102
ENST00000542328.5 hg19 chr7 150,725,509 150,744,869 19,361
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