ABCA9 ATP binding cassette subfamily A member 9

Information
Symbol
ABCA9
Type
protein-coding
Description
ATP binding cassette subfamily A member 9
Entrez Gene ID
10350
Genome
hg19
Position
chr17:66,970,629-67,057,068
Genome
hg38
Position
chr17:68,974,488-69,060,927
MIM
612507 OMIM
HGNC
HGNC:39 HGNC
Ensembl
ENSG00000154258 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 22
Uncertain significance 0 174
Ranking
ClinVar
0
0
0
196
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 :
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 EST640918
MIM 612507 OMIM
HGNC HGNC:39 HGNC
Ensembl ENSG00000154258 Ensembl
AllianceGenome HGNC:39
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000340001.9 hg38 chr17 68,974,488 69,060,927 86,440
ENST00000453985.6 hg38 chr17 68,974,632 69,060,924 86,293
ENST00000495634.5 hg38 chr17 69,042,915 69,060,906 17,992
ENST00000340001.9 hg19 chr17 66,970,629 67,057,068 86,440
ENST00000453985.6 hg19 chr17 66,970,773 67,057,065 86,293
ENST00000495634.5 hg19 chr17 67,039,056 67,057,047 17,992
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