ATXN1L ataxin 1 like

Information
Symbol
ATXN1L
Type
protein-coding
Description
ataxin 1 like
Entrez Gene ID
342371
Genome
hg19
Position
chr16:71,842,342-71,891,231
Genome
hg38
Position
chr16:71,808,439-71,857,328
MIM
614301 OMIM
HGNC
HGNC:33279 HGNC
Ensembl
ENSG00000224470 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 92
Ranking
ClinVar
0
0
0
96
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 BOAT
SYNONYM BOAT1
MIM 614301 OMIM
HGNC HGNC:33279 HGNC
Ensembl ENSG00000224470 Ensembl
AllianceGenome HGNC:33279
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000427980.7 hg38 chr16 71,845,976 71,857,328 11,353
ENST00000683775.1 hg38 chr16 71,808,439 71,857,328 48,890
ENST00000683775.1 hg19 chr16 71,842,342 71,891,231 48,890
ENST00000427980.7 hg19 chr16 71,879,879 71,891,231 11,353
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