ATXN7L3 ataxin 7 like 3

Information
Symbol
ATXN7L3
Type
protein-coding
Description
ataxin 7 like 3
Entrez Gene ID
56970
Genome
hg19
Position
chr17:42,269,173-42,275,438
Genome
hg38
Position
chr17:44,191,805-44,198,070
MIM
619010 OMIM
HGNC
HGNC:25416 HGNC
Ensembl
ENSG00000087152 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 2
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
38
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 :
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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 SGF11
MIM 619010 OMIM
HGNC HGNC:25416 HGNC
Ensembl ENSG00000087152 Ensembl
AllianceGenome HGNC:25416
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000454077.6 hg38 chr17 44,191,805 44,198,070 6,266
ENST00000587097.6 hg38 chr17 44,191,805 44,199,884 8,080
ENST00000389384.8 hg38 chr17 44,191,805 44,198,379 6,575
ENST00000454077.6 hg19 chr17 42,269,173 42,275,438 6,266
ENST00000389384.8 hg19 chr17 42,269,173 42,275,747 6,575
ENST00000587097.6 hg19 chr17 42,269,173 42,277,252 8,080
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