SPAST spastin

Information
Symbol
SPAST
Type
protein-coding
Description
spastin
Entrez Gene ID
6683
Genome
hg19
Position
chr2:32,288,625-32,382,706
Genome
hg38
Position
chr2:32,063,556-32,157,637
MIM
604277 OMIM
HGNC
HGNC:11233 HGNC
Ensembl
ENSG00000021574 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 778
Likely pathogenic 0 288
Benign 4 142
Likely benign 0 388
Conflicting classifications of pathogenicity 0 122
Likely benign; other; risk factor 0 2
not provided 0 4
Uncertain significance 0 706
Ranking
ClinVar
0
0
424
1,722
36
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 ADPSP
SYNONYM FSP2
SYNONYM SPG4
MIM 604277 OMIM
HGNC HGNC:11233 HGNC
Ensembl ENSG00000021574 Ensembl
AllianceGenome HGNC:11233
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000645671.2 hg38 chr2 32,063,832 32,154,757 90,926
ENST00000644408.2 hg38 chr2 32,063,832 32,154,957 91,126
ENST00000642455.1 hg38 chr2 32,063,828 32,154,847 91,020
ENST00000713716.1 hg38 chr2 32,063,582 32,155,774 92,193
ENST00000644954.1 hg38 chr2 32,063,970 32,157,611 93,642
ENST00000642999.1 hg38 chr2 32,063,968 32,157,482 93,515
ENST00000647133.2 hg38 chr2 32,063,832 32,155,716 91,885
ENST00000642281.2 hg38 chr2 32,063,832 32,155,036 91,205
ENST00000315285.9 hg38 chr2 32,063,556 32,157,637 94,082
ENST00000642751.2 hg38 chr2 32,063,832 32,157,637 93,806
ENST00000646571.1 hg38 chr2 32,063,611 32,157,637 94,027
ENST00000621856.2 hg38 chr2 32,063,782 32,154,682 90,901
ENST00000315285.9 hg19 chr2 32,288,625 32,382,706 94,082
ENST00000644408.2 hg19 chr2 32,288,901 32,380,026 91,126
ENST00000642281.2 hg19 chr2 32,288,901 32,380,105 91,205
ENST00000642751.2 hg19 chr2 32,288,901 32,382,706 93,806
ENST00000642999.1 hg19 chr2 32,289,037 32,382,551 93,515
ENST00000621856.2 hg19 chr2 32,288,851 32,379,751 90,901
ENST00000642455.1 hg19 chr2 32,288,897 32,379,916 91,020
ENST00000645671.2 hg19 chr2 32,288,901 32,379,826 90,926
ENST00000646571.1 hg19 chr2 32,288,680 32,382,706 94,027
ENST00000647133.2 hg19 chr2 32,288,901 32,380,785 91,885
ENST00000713716.1 hg19 chr2 32,288,651 32,380,843 92,193
ENST00000644954.1 hg19 chr2 32,289,039 32,382,680 93,642
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