GAA alpha glucosidase

Information
Symbol
GAA
Type
protein-coding
Description
alpha glucosidase
Entrez Gene ID
2548
Genome
hg19
Position
chr17:78,075,380-78,093,680
Genome
hg38
Position
chr17:80,101,581-80,119,881
MIM
606800 OMIM
HGNC
HGNC:4065 HGNC
Ensembl
ENSG00000171298 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 64 734
Likely pathogenic 0 602
Benign 0 216
Likely benign 0 1,998
Conflicting classifications of pathogenicity 0 394
Conflicting classifications of pathogenicity; other 0 4
not provided 0 2
Uncertain significance 0 1,684
Ranking
ClinVar
0
564
1,102
3,360
24
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 :
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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 LYAG
MIM 606800 OMIM
HGNC HGNC:4065 HGNC
Ensembl ENSG00000171298 Ensembl
AllianceGenome HGNC:4065
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000714062.1 hg38 chr17 80,101,598 80,119,881 18,284
ENST00000302262.8 hg38 chr17 80,101,581 80,119,881 18,301
ENST00000714054.1 hg38 chr17 80,101,576 80,119,423 17,848
ENST00000714055.1 hg38 chr17 80,101,581 80,119,877 18,297
ENST00000390015.7 hg38 chr17 80,101,594 80,119,877 18,284
ENST00000714058.1 hg38 chr17 80,101,657 80,119,867 18,211
ENST00000714057.1 hg38 chr17 80,101,638 80,119,715 18,078
ENST00000577106.6 hg38 chr17 80,101,576 80,119,869 18,294
ENST00000570803.6 hg38 chr17 80,101,533 80,119,869 18,337
ENST00000570803.6 hg19 chr17 78,075,332 78,093,668 18,337
ENST00000714054.1 hg19 chr17 78,075,375 78,093,222 17,848
ENST00000577106.6 hg19 chr17 78,075,375 78,093,668 18,294
ENST00000714055.1 hg19 chr17 78,075,380 78,093,676 18,297
ENST00000302262.8 hg19 chr17 78,075,380 78,093,680 18,301
ENST00000390015.7 hg19 chr17 78,075,393 78,093,676 18,284
ENST00000714062.1 hg19 chr17 78,075,397 78,093,680 18,284
ENST00000714057.1 hg19 chr17 78,075,437 78,093,514 18,078
ENST00000714058.1 hg19 chr17 78,075,456 78,093,666 18,211
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