ATXN3L ataxin 3 like

Information
Symbol
ATXN3L
Type
protein-coding
Description
ataxin 3 like
Entrez Gene ID
92552
Genome
hg19
Position
chrX:13,336,766-13,338,172
Genome
hg38
Position
chrX:13,318,647-13,320,053
MIM
300920 OMIM
HGNC
HGNC:24173 HGNC
Ensembl
ENSG00000123594 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Conflicting classifications of pathogenicity 0 4
not provided 7 0
Uncertain significance 0 24
Ranking
ClinVar
0
0
0
26
2
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 MJDL
MIM 300920 OMIM
HGNC HGNC:24173 HGNC
Ensembl ENSG00000123594 Ensembl
AllianceGenome HGNC:24173
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000380622.5 hg38 chrX 13,318,647 13,320,053 1,407
ENST00000380622.5 hg19 chrX 13,336,766 13,338,172 1,407
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