MPDU1 mannose-P-dolichol utilization defect 1

Information
Symbol
MPDU1
Type
protein-coding
Description
mannose-P-dolichol utilization defect 1
Entrez Gene ID
9526
Genome
hg19
Position
chr17:7,487,170-7,491,530
Genome
hg38
Position
chr17:7,583,852-7,588,212
MIM
604041 OMIM
HGNC
HGNC:7207 HGNC
Ensembl
ENSG00000129255 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 10
Benign 0 18
Likely benign 0 56
Conflicting classifications of pathogenicity 0 18
Uncertain significance 0 156
Ranking
ClinVar
0
0
34
202
6
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 CDGIF
SYNONYM HBEBP2BPA
SYNONYM Lec35
SYNONYM My008
SYNONYM PP3958
SYNONYM PQLC5
SYNONYM SL15
SYNONYM SLC66A5
MIM 604041 OMIM
HGNC HGNC:7207 HGNC
Ensembl ENSG00000129255 Ensembl
AllianceGenome HGNC:7207
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000250124.11 hg38 chr17 7,583,852 7,588,212 4,361
ENST00000423172.6 hg38 chr17 7,583,853 7,592,789 8,937
ENST00000582151.1 hg38 chr17 7,583,529 7,584,256 728
ENST00000396501.8 hg38 chr17 7,583,828 7,587,955 4,128
ENST00000250124.11 hg19 chr17 7,487,170 7,491,530 4,361
ENST00000396501.8 hg19 chr17 7,487,146 7,491,273 4,128
ENST00000423172.6 hg19 chr17 7,487,171 7,496,107 8,937
ENST00000582151.1 hg19 chr17 7,486,847 7,487,574 728
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