GBA1 glucosylceramidase beta 1

Information
Symbol
GBA1
Type
protein-coding
Description
glucosylceramidase beta 1
Entrez Gene ID
2629
Genome
hg19
Position
chr1:155,204,243-155,214,461
Genome
hg38
Position
chr1:155,234,452-155,244,670
MIM
606463 OMIM
HGNC
HGNC:4177 HGNC
Ensembl
ENSG00000177628 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 192
Likely pathogenic 6 166
Benign 0 18
Likely benign 2 68
Conflicting classifications of pathogenicity 0 70
Conflicting classifications of pathogenicity; other 0 2
Likely benign; risk factor 0 2
Likely pathogenic; risk factor 0 2
not provided 0 2
Pathogenic; risk factor 0 2
Uncertain significance 0 246
Ranking
ClinVar
0
0
178
354
96
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 GBA
SYNONYM GCB
SYNONYM GLUC
MIM 606463 OMIM
HGNC HGNC:4177 HGNC
Ensembl ENSG00000177628 Ensembl
AllianceGenome HGNC:4177
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000327247.9 hg38 chr1 155,234,452 155,244,670 10,219
ENST00000427500.7 hg38 chr1 155,234,559 155,241,275 6,717
ENST00000368373.8 hg38 chr1 155,234,452 155,241,249 6,798
ENST00000428024.3 hg38 chr1 155,234,868 155,244,699 9,832
ENST00000368373.8 hg19 chr1 155,204,243 155,211,040 6,798
ENST00000327247.9 hg19 chr1 155,204,243 155,214,461 10,219
ENST00000427500.7 hg19 chr1 155,204,350 155,211,066 6,717
ENST00000428024.3 hg19 chr1 155,204,659 155,214,490 9,832
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