ARSA arylsulfatase A

Information
Symbol
ARSA
Type
protein-coding
Description
arylsulfatase A
Entrez Gene ID
410
Genome
hg19
Position
chr22:51,061,182-51,066,580
Genome
hg38
Position
chr22:50,622,754-50,628,152
MIM
607574 OMIM
HGNC
HGNC:713 HGNC
Ensembl
ENSG00000100299 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 376
Likely pathogenic 2 336
Benign 0 98
Likely benign 0 786
Benign; other 0 2
Conflicting classifications of pathogenicity 0 114
Likely benign; other 0 2
not provided 1 266
Uncertain significance 0 614
Uncertain significance; other 0 2
Ranking
ClinVar
0
0
338
1,714
26
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 ASA
SYNONYM MLD
MIM 607574 OMIM
HGNC HGNC:713 HGNC
Ensembl ENSG00000100299 Ensembl
AllianceGenome HGNC:713
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000356098.9 hg38 chr22 50,625,018 50,628,170 3,153
ENST00000216124.10 hg38 chr22 50,622,754 50,628,152 5,399
ENST00000395621.7 hg38 chr22 50,625,028 50,628,155 3,128
ENST00000395619.3 hg38 chr22 50,625,033 50,628,159 3,127
ENST00000453344.6 hg38 chr22 50,625,029 50,628,173 3,145
ENST00000216124.10 hg19 chr22 51,061,182 51,066,580 5,399
ENST00000356098.9 hg19 chr22 51,063,446 51,066,598 3,153
ENST00000395621.7 hg19 chr22 51,063,456 51,066,583 3,128
ENST00000453344.6 hg19 chr22 51,063,457 51,066,601 3,145
ENST00000395619.3 hg19 chr22 51,063,461 51,066,587 3,127
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