ADSL adenylosuccinate lyase

Information
Symbol
ADSL
Type
protein-coding
Description
adenylosuccinate lyase
Entrez Gene ID
158
Genome
hg19
Position
chr22:40,742,504-40,763,841
Genome
hg38
Position
chr22:40,346,500-40,367,837
MIM
608222 OMIM
HGNC
HGNC:291 HGNC
Ensembl
ENSG00000239900 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 90
Likely pathogenic 0 58
Benign 0 64
Likely benign 0 364
Conflicting classifications of pathogenicity 0 78
Uncertain significance 0 524
Ranking
ClinVar
0
0
200
862
8
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 AMPS
SYNONYM ASASE
SYNONYM ASL
MIM 608222 OMIM
HGNC HGNC:291 HGNC
Ensembl ENSG00000239900 Ensembl
AllianceGenome HGNC:291
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000623632.4 hg38 chr22 40,346,461 40,366,614 20,154
ENST00000216194.11 hg38 chr22 40,346,528 40,366,614 20,087
ENST00000623063.3 hg38 chr22 40,346,500 40,369,367 22,868
ENST00000342312.9 hg38 chr22 40,346,503 40,366,996 20,494
ENST00000680378.1 hg38 chr22 40,346,555 40,366,965 20,411
ENST00000625194.4 hg38 chr22 40,346,500 40,366,968 20,469
ENST00000636714.1 hg38 chr22 40,346,514 40,387,476 40,963
ENST00000679723.1 hg38 chr22 40,346,500 40,369,425 22,926
ENST00000680978.1 hg38 chr22 40,346,500 40,367,837 21,338
ENST00000637666.2 hg38 chr22 40,346,500 40,367,837 21,338
ENST00000623632.4 hg19 chr22 40,742,465 40,762,618 20,154
ENST00000625194.4 hg19 chr22 40,742,504 40,762,972 20,469
ENST00000623063.3 hg19 chr22 40,742,504 40,765,371 22,868
ENST00000216194.11 hg19 chr22 40,742,532 40,762,618 20,087
ENST00000342312.9 hg19 chr22 40,742,507 40,763,000 20,494
ENST00000637666.2 hg19 chr22 40,742,504 40,763,841 21,338
ENST00000636714.1 hg19 chr22 40,742,518 40,783,480 40,963
ENST00000680978.1 hg19 chr22 40,742,504 40,763,841 21,338
ENST00000679723.1 hg19 chr22 40,742,504 40,765,429 22,926
ENST00000680378.1 hg19 chr22 40,742,559 40,762,969 20,411
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