GLUL glutamate-ammonia ligase

Information
Symbol
GLUL
Type
protein-coding
Description
glutamate-ammonia ligase
Entrez Gene ID
2752
Genome
hg19
Position
chr1:182,347,233-182,360,925
Genome
hg38
Position
chr1:182,378,098-182,391,790
MIM
138290 OMIM
HGNC
HGNC:4341 HGNC
Ensembl
ENSG00000135821 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 8
Benign 0 66
Likely benign 0 106
Conflicting classifications of pathogenicity 0 12
not provided 0 4
Uncertain significance 0 256
Ranking
ClinVar
0
0
26
408
10
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 DEE116
SYNONYM GLNS
SYNONYM GS
SYNONYM PIG43
SYNONYM PIG59
MIM 138290 OMIM
HGNC HGNC:4341 HGNC
Ensembl ENSG00000135821 Ensembl
AllianceGenome HGNC:4341
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000331872.11 hg38 chr1 182,378,098 182,391,790 13,693
ENST00000339526.8 hg38 chr1 182,382,894 182,391,792 8,899
ENST00000642379.1 hg38 chr1 182,381,704 182,391,346 9,643
ENST00000311223.9 hg38 chr1 182,381,705 182,392,206 10,502
ENST00000417584.6 hg38 chr1 182,381,705 182,391,404 9,700
ENST00000331872.11 hg19 chr1 182,347,233 182,360,925 13,693
ENST00000642379.1 hg19 chr1 182,350,839 182,360,481 9,643
ENST00000417584.6 hg19 chr1 182,350,840 182,360,539 9,700
ENST00000311223.9 hg19 chr1 182,350,840 182,361,341 10,502
ENST00000339526.8 hg19 chr1 182,352,029 182,360,927 8,899
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