GPD1 glycerol-3-phosphate dehydrogenase 1

Information
Symbol
GPD1
Type
protein-coding
Description
glycerol-3-phosphate dehydrogenase 1
Entrez Gene ID
2819
Genome
hg19
Position
chr12:50,497,791-50,505,096
Genome
hg38
Position
chr12:50,104,008-50,111,313
MIM
138420 OMIM
HGNC
HGNC:4455 HGNC
Ensembl
ENSG00000167588 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 10
Likely pathogenic 0 6
Benign 0 28
Likely benign 0 82
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 82
Ranking
ClinVar
0
0
32
158
4
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 :
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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 GPD-C
SYNONYM GPDH-C
SYNONYM HTGTI
MIM 138420 OMIM
HGNC HGNC:4455 HGNC
Ensembl ENSG00000167588 Ensembl
AllianceGenome HGNC:4455
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000301149.8 hg38 chr12 50,104,008 50,111,313 7,306
ENST00000548814.1 hg38 chr12 50,104,008 50,110,086 6,079
ENST00000548814.1 hg19 chr12 50,497,791 50,503,869 6,079
ENST00000301149.8 hg19 chr12 50,497,791 50,505,096 7,306
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