ALG9 ALG9 alpha-1,2-mannosyltransferase

Information
Symbol
ALG9
Type
protein-coding
Description
ALG9 alpha-1,2-mannosyltransferase
Entrez Gene ID
79796
Genome
hg19
Position
chr11:111,652,919-111,742,305
Genome
hg38
Position
chr11:111,782,195-111,871,581
MIM
606941 OMIM
HGNC
HGNC:15672 HGNC
Ensembl
ENSG00000086848 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 14
Benign 0 81
Likely benign 0 174
Conflicting classifications of pathogenicity 0 28
Uncertain significance 0 302
Ranking
ClinVar
0
0
74
477
18
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 CDG1L
SYNONYM DIBD1
SYNONYM GIKANIS
SYNONYM LOH11CR1J
MIM 606941 OMIM
HGNC HGNC:15672 HGNC
Ensembl ENSG00000086848 Ensembl
AllianceGenome HGNC:15672
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000398006.6 hg38 chr11 111,786,284 111,871,301 85,018
ENST00000616540.5 hg38 chr11 111,782,195 111,871,581 89,387
ENST00000531154.5 hg38 chr11 111,786,284 111,870,865 84,582
ENST00000614444.4 hg38 chr11 111,786,256 111,871,533 85,278
ENST00000398006.6 hg19 chr11 111,657,008 111,742,024 85,017
ENST00000531154.5 hg19 chr11 111,657,008 111,741,588 84,581
ENST00000614444.4 hg19 chr11 111,656,980 111,742,257 85,278
ENST00000616540.5 hg19 chr11 111,652,919 111,742,305 89,387
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