TOR1AIP1 torsin 1A interacting protein 1

Information
Symbol
TOR1AIP1
Type
protein-coding
Description
torsin 1A interacting protein 1
Entrez Gene ID
26092
Genome
hg19
Position
chr1:179,851,177-179,888,843
Genome
hg38
Position
chr1:179,882,042-179,919,708
MIM
614512 OMIM
HGNC
HGNC:29456 HGNC
Ensembl
ENSG00000143337 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 22
Benign 0 60
Likely benign 0 302
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 452
Ranking
ClinVar
0
0
104
744
4
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 LAP1
SYNONYM LAP1B
SYNONYM LAP1C
SYNONYM LGMD2Y
MIM 614512 OMIM
HGNC HGNC:29456 HGNC
Ensembl ENSG00000143337 Ensembl
AllianceGenome HGNC:29456
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000271583.7 hg38 chr1 179,882,297 179,919,277 36,981
ENST00000435319.8 hg38 chr1 179,882,696 179,920,077 37,382
ENST00000528443.6 hg38 chr1 179,882,042 179,919,708 37,667
ENST00000606911.7 hg38 chr1 179,882,285 179,920,076 37,792
ENST00000528443.6 hg19 chr1 179,851,177 179,888,843 37,667
ENST00000606911.7 hg19 chr1 179,851,420 179,889,211 37,792
ENST00000271583.7 hg19 chr1 179,851,432 179,888,412 36,981
ENST00000435319.8 hg19 chr1 179,851,831 179,889,212 37,382
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