AAAS aladin WD repeat nucleoporin

Information
Symbol
AAAS
Type
protein-coding
Description
aladin WD repeat nucleoporin
Entrez Gene ID
8086
Genome
hg19
Position
chr12:53,701,244-53,715,394
Genome
hg38
Position
chr12:53,307,460-53,321,610
MIM
605378 OMIM
HGNC
HGNC:13666 HGNC
Ensembl
ENSG00000094914 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 124
Likely pathogenic 0 52
Benign 0 48
Likely benign 0 464
Conflicting classifications of pathogenicity 0 48
Uncertain significance 0 194
Ranking
ClinVar
0
0
94
752
10
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 AAA
SYNONYM AAASb
SYNONYM ADRACALA
SYNONYM ADRACALIN
SYNONYM ALADIN
SYNONYM GL003
MIM 605378 OMIM
HGNC HGNC:13666 HGNC
Ensembl ENSG00000094914 Ensembl
AllianceGenome HGNC:13666
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000547757.2 hg38 chr12 53,307,476 53,321,299 13,824
ENST00000394384.7 hg38 chr12 53,307,459 53,321,596 14,138
ENST00000550286.5 hg38 chr12 53,307,460 53,324,758 17,299
ENST00000209873.9 hg38 chr12 53,307,460 53,321,610 14,151
ENST00000394384.7 hg19 chr12 53,701,243 53,715,380 14,138
ENST00000209873.9 hg19 chr12 53,701,244 53,715,394 14,151
ENST00000550286.5 hg19 chr12 53,701,244 53,718,542 17,299
ENST00000547757.2 hg19 chr12 53,701,260 53,715,083 13,824
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