ABCG5 ATP binding cassette subfamily G member 5

Information
Symbol
ABCG5
Type
protein-coding
Description
ATP binding cassette subfamily G member 5
Entrez Gene ID
64240
Genome
hg19
Position
chr2:44,039,611-44,065,978
Genome
hg38
Position
chr2:43,812,472-43,838,839
MIM
605459 OMIM
HGNC
HGNC:13886 HGNC
Ensembl
ENSG00000138075 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 64
Likely pathogenic 2 32
Benign 0 94
Likely benign 0 374
Conflicting classifications of pathogenicity 0 98
Uncertain significance 0 618
Ranking
ClinVar
0
0
274
858
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 STSL
SYNONYM STSL2
MIM 605459 OMIM
HGNC HGNC:13886 HGNC
Ensembl ENSG00000138075 Ensembl
AllianceGenome HGNC:13886
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000405322.8 hg38 chr2 43,812,472 43,838,839 26,368
ENST00000405322.8 hg19 chr2 44,039,611 44,065,978 26,368
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