ABCA8 ATP binding cassette subfamily A member 8

Information
Symbol
ABCA8
Type
protein-coding
Description
ATP binding cassette subfamily A member 8
Entrez Gene ID
10351
Genome
hg19
Position
chr17:66,863,430-66,951,533
Genome
hg38
Position
chr17:68,867,289-68,955,392
MIM
612505 OMIM
HGNC
HGNC:38 HGNC
Ensembl
ENSG00000141338 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 20
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 172
Ranking
ClinVar
0
0
2
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
MIM 612505 OMIM
HGNC HGNC:38 HGNC
Ensembl ENSG00000141338 Ensembl
AllianceGenome HGNC:38
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000430352.6 hg38 chr17 68,867,292 68,955,392 88,101
ENST00000586539.6 hg38 chr17 68,867,289 68,955,392 88,104
ENST00000269080.6 hg38 chr17 68,867,292 68,955,351 88,060
ENST00000586539.6 hg19 chr17 66,863,430 66,951,533 88,104
ENST00000269080.6 hg19 chr17 66,863,433 66,951,492 88,060
ENST00000430352.6 hg19 chr17 66,863,433 66,951,533 88,101
Genome browser