ABCG8 ATP binding cassette subfamily G member 8

Information
Symbol
ABCG8
Type
protein-coding
Description
ATP binding cassette subfamily G member 8
Entrez Gene ID
64241
Genome
hg19
Position
chr2:44,066,110-44,110,127
Genome
hg38
Position
chr2:43,838,971-43,882,988
MIM
605460 OMIM
HGNC
HGNC:13887 HGNC
Ensembl
ENSG00000143921 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 62
Likely pathogenic 0 38
Benign 0 142
Likely benign 0 394
Conflicting classifications of pathogenicity 0 168
Likely benign; association 0 2
Uncertain significance 0 696
Ranking
ClinVar
0
0
334
948
12
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 GBD4
SYNONYM STSL
SYNONYM STSL1
MIM 605460 OMIM
HGNC HGNC:13887 HGNC
Ensembl ENSG00000143921 Ensembl
AllianceGenome HGNC:13887
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000272286.4 hg38 chr2 43,838,971 43,882,988 44,018
ENST00000272286.4 hg19 chr2 44,066,110 44,110,127 44,018
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