ASPA aspartoacylase

Information
Symbol
ASPA
Type
protein-coding
Description
aspartoacylase
Entrez Gene ID
443
Genome
hg19
Position
chr17:3,379,291-3,406,699
Genome
hg38
Position
chr17:3,475,997-3,503,405
MIM
608034 OMIM
HGNC
HGNC:756 HGNC
Ensembl
ENSG00000108381 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 158
Likely pathogenic 0 190
Benign 0 32
Likely benign 0 324
Conflicting classifications of pathogenicity 0 30
not provided 0 2
Uncertain significance 0 134
Ranking
ClinVar
0
0
160
592
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 :
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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 ACY2
SYNONYM ASP
MIM 608034 OMIM
HGNC HGNC:756 HGNC
Ensembl ENSG00000108381 Ensembl
AllianceGenome HGNC:756
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000456349.6 hg38 chr17 3,474,053 3,499,088 25,036
ENST00000263080.3 hg38 chr17 3,475,997 3,503,405 27,409
ENST00000456349.6 hg19 chr17 3,377,347 3,402,382 25,036
ENST00000263080.3 hg19 chr17 3,379,291 3,406,699 27,409
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