ABCD1 ATP binding cassette subfamily D member 1

Information
Symbol
ABCD1
Type
protein-coding
Description
ATP binding cassette subfamily D member 1
Entrez Gene ID
215
Genome
hg19
Position
chrX:152,990,311-153,010,209
Genome
hg38
Position
chrX:153,724,856-153,744,755
MIM
300371 OMIM
HGNC
HGNC:61 HGNC
Ensembl
ENSG00000101986 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 15 512
Likely pathogenic 0 406
Benign 0 186
Likely benign 0 992
Conflicting classifications of pathogenicity 0 224
not provided 6 0
Uncertain significance 0 752
Ranking
ClinVar
0
0
468
2,208
24
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 ABC42
SYNONYM ALD
SYNONYM ALDP
SYNONYM AMN
MIM 300371 OMIM
HGNC HGNC:61 HGNC
Ensembl ENSG00000101986 Ensembl
AllianceGenome HGNC:61
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000218104.6 hg38 chrX 153,724,856 153,744,755 19,900
ENST00000370129.4 hg38 chrX 153,725,817 153,729,897 4,081
ENST00000218104.6 hg19 chrX 152,990,311 153,010,209 19,899
ENST00000370129.4 hg19 chrX 152,991,272 152,995,352 4,081
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