ABCA5 ATP binding cassette subfamily A member 5

Information
Symbol
ABCA5
Type
protein-coding
Description
ATP binding cassette subfamily A member 5
Entrez Gene ID
23461
Genome
hg19
Position
chr17:67,240,452-67,323,274
Genome
hg38
Position
chr17:69,244,311-69,327,133
MIM
612503 OMIM
HGNC
HGNC:35 HGNC
Ensembl
ENSG00000154265 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 4
Benign 0 30
Likely benign 0 68
Uncertain significance 0 178
Ranking
ClinVar
0
0
18
260
2
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 ABC13
SYNONYM EST90625
SYNONYM HTC3
MIM 612503 OMIM
HGNC HGNC:35 HGNC
Ensembl ENSG00000154265 Ensembl
AllianceGenome HGNC:35
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392676.8 hg38 chr17 69,244,311 69,327,133 82,823
ENST00000588877.5 hg38 chr17 69,246,951 69,315,425 68,475
ENST00000392676.8 hg19 chr17 67,240,452 67,323,274 82,823
ENST00000588877.5 hg19 chr17 67,243,092 67,311,566 68,475
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