TOR1A torsin family 1 member A

Information
Symbol
TOR1A
Type
protein-coding
Description
torsin family 1 member A
Entrez Gene ID
1861
Genome
hg19
Position
chr9:132,575,221-132,586,415
Genome
hg38
Position
chr9:129,812,942-129,824,136
MIM
605204 OMIM
HGNC
HGNC:3098 HGNC
Ensembl
ENSG00000136827 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 12
Likely pathogenic 0 10
Benign 8 56
Likely benign 0 116
Conflicting classifications of pathogenicity 0 14
not provided 0 4
Uncertain significance 0 192
Ranking
ClinVar
0
0
56
308
6
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 AMC5
SYNONYM DQ2
SYNONYM DYT1
MIM 605204 OMIM
HGNC HGNC:3098 HGNC
Ensembl ENSG00000136827 Ensembl
AllianceGenome HGNC:3098
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000351698.5 hg38 chr9 129,812,942 129,824,136 11,195
ENST00000651202.1 hg38 chr9 129,812,965 129,824,244 11,280
ENST00000351698.5 hg19 chr9 132,575,221 132,586,415 11,195
ENST00000651202.1 hg19 chr9 132,575,244 132,586,523 11,280
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