NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit

Information
Symbol
NUS1
Type
protein-coding
Description
NUS1 dehydrodolichyl diphosphate synthase subunit
Entrez Gene ID
116150
Genome
hg19
Position
chr6:117,996,632-118,031,890
Genome
hg38
Position
chr6:117,675,469-117,710,727
MIM
610463 OMIM
HGNC
HGNC:21042 HGNC
Ensembl
ENSG00000153989 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 64
Likely pathogenic 0 40
Benign 0 30
Likely benign 0 264
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 322
Ranking
ClinVar
0
0
68
638
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
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 C6orf68
SYNONYM CDG1AA
SYNONYM MGC:7199
SYNONYM MRD55
SYNONYM NgBR
SYNONYM TANGO14
MIM 610463 OMIM
HGNC HGNC:21042 HGNC
Ensembl ENSG00000153989 Ensembl
AllianceGenome HGNC:21042
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368494.4 hg38 chr6 117,675,469 117,710,727 35,259
ENST00000368494.4 hg19 chr6 117,996,632 118,031,890 35,259
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