ABCA6 ATP binding cassette subfamily A member 6

Information
Symbol
ABCA6
Type
protein-coding
Description
ATP binding cassette subfamily A member 6
Entrez Gene ID
23460
Genome
hg19
Position
chr17:67,074,843-67,138,036
Genome
hg38
Position
chr17:69,078,702-69,141,895
MIM
612504 OMIM
HGNC
HGNC:36 HGNC
Ensembl
ENSG00000154262 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 24
Uncertain significance 0 180
Ranking
ClinVar
0
0
0
204
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 EST155051
MIM 612504 OMIM
HGNC HGNC:36 HGNC
Ensembl ENSG00000154262 Ensembl
AllianceGenome HGNC:36
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000590645.1 hg38 chr17 69,135,230 69,141,888 6,659
ENST00000284425.7 hg38 chr17 69,078,702 69,141,895 63,194
ENST00000284425.7 hg19 chr17 67,074,843 67,138,036 63,194
ENST00000590645.1 hg19 chr17 67,131,371 67,138,029 6,659
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