ASNSD1 asparagine synthetase domain containing 1

Information
Symbol
ASNSD1
Type
protein-coding
Description
asparagine synthetase domain containing 1
Entrez Gene ID
54529
Genome
hg19
Position
chr2:190,526,185-190,535,557
Genome
hg38
Position
chr2:189,661,459-189,670,831
MIM
619739 OMIM
HGNC
HGNC:24910 HGNC
Ensembl
ENSG00000138381 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
70
0
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 NBLA00058
SYNONYM NS3TP1
MIM 619739 OMIM
HGNC HGNC:24910 HGNC
Ensembl ENSG00000138381 Ensembl
AllianceGenome HGNC:24910
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000260952.9 hg38 chr2 189,661,459 189,670,831 9,373
ENST00000607062.5 hg38 chr2 189,661,385 189,670,757 9,373
ENST00000607062.5 hg19 chr2 190,526,111 190,535,483 9,373
ENST00000260952.9 hg19 chr2 190,526,185 190,535,557 9,373
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