GALT galactose-1-phosphate uridylyltransferase

Information
Symbol
GALT
Type
protein-coding
Description
galactose-1-phosphate uridylyltransferase
Entrez Gene ID
2592
Genome
hg19
Position
chr9:34,646,672-34,651,032
Genome
hg38
Position
chr9:34,646,675-34,651,035
MIM
606999 OMIM
HGNC
HGNC:4135 HGNC
Ensembl
ENSG00000213930 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 314
Likely pathogenic 0 344
Benign 0 28
Likely benign 0 510
Benign; other 0 2
Conflicting classifications of pathogenicity 0 152
Conflicting classifications of pathogenicity; other 0 2
not provided 0 4
Uncertain significance 0 304
Ranking
ClinVar
0
0
318
996
20
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
MIM 606999 OMIM
HGNC HGNC:4135 HGNC
Ensembl ENSG00000213930 Ensembl
AllianceGenome HGNC:4135
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000378842.8 hg38 chr9 34,646,675 34,651,035 4,361
ENST00000450095.6 hg38 chr9 34,646,589 34,650,598 4,010
ENST00000450095.6 hg19 chr9 34,646,586 34,650,595 4,010
ENST00000378842.8 hg19 chr9 34,646,672 34,651,032 4,361
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