NADSYN1 NAD synthetase 1

Information
Symbol
NADSYN1
Type
protein-coding
Description
NAD synthetase 1
Entrez Gene ID
55191
Genome
hg19
Position
chr11:71,164,249-71,212,862
Genome
hg38
Position
chr11:71,453,203-71,501,816
MIM
608285 OMIM
HGNC
HGNC:29832 HGNC
Ensembl
ENSG00000172890 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 10
Benign 0 32
Likely benign 0 16
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 112
Ranking
ClinVar
0
0
16
154
8
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 :
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 VCRL3
MIM 608285 OMIM
HGNC HGNC:29832 HGNC
Ensembl ENSG00000172890 Ensembl
AllianceGenome HGNC:29832
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000319023.7 hg38 chr11 71,453,203 71,501,816 48,614
ENST00000530055.5 hg38 chr11 71,479,294 71,501,539 22,246
ENST00000319023.7 hg19 chr11 71,164,249 71,212,862 48,614
ENST00000530055.5 hg19 chr11 71,190,340 71,212,585 22,246
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