ABCA7 ATP binding cassette subfamily A member 7

Information
Symbol
ABCA7
Type
protein-coding
Description
ATP binding cassette subfamily A member 7
Entrez Gene ID
10347
Genome
hg19
Position
chr19:1,040,106-1,065,571
Genome
hg38
Position
chr19:1,040,107-1,065,572
MIM
605414 OMIM
HGNC
HGNC:37 HGNC
Ensembl
ENSG00000064687 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 20
Benign 69 78
Likely benign 0 140
Conflicting classifications of pathogenicity 0 12
Conflicting classifications of pathogenicity; risk factor 0 2
Likely pathogenic; risk factor 0 2
risk factor 0 4
Uncertain significance 0 342
Ranking
ClinVar
0
0
38
526
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 ABCA-SSN
SYNONYM ABCX
SYNONYM AD9
MIM 605414 OMIM
HGNC HGNC:37 HGNC
Ensembl ENSG00000064687 Ensembl
AllianceGenome HGNC:37
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000263094.11 hg38 chr19 1,040,107 1,065,572 25,466
ENST00000263094.11 hg19 chr19 1,040,106 1,065,571 25,466
Genome browser