GGPS1 geranylgeranyl diphosphate synthase 1

Information
Symbol
GGPS1
Type
protein-coding
Description
geranylgeranyl diphosphate synthase 1
Entrez Gene ID
9453
Genome
hg19
Position
chr1:235,491,885-235,507,847
Genome
hg38
Position
chr1:235,328,570-235,344,532
MIM
606982 OMIM
HGNC
HGNC:4249 HGNC
Ensembl
ENSG00000152904 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
14
12
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 :
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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 GGPPS
SYNONYM GGPPS1
SYNONYM MDHLO
SYNONYM MUDHLOV
MIM 606982 OMIM
HGNC HGNC:4249 HGNC
Ensembl ENSG00000152904 Ensembl
AllianceGenome HGNC:4249
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000488594.5 hg38 chr1 235,327,350 235,343,093 15,744
ENST00000282841.9 hg38 chr1 235,328,570 235,344,532 15,963
ENST00000391855.2 hg38 chr1 235,328,571 235,343,138 14,568
ENST00000358966.6 hg38 chr1 235,328,438 235,344,525 16,088
ENST00000488594.5 hg19 chr1 235,490,665 235,506,408 15,744
ENST00000358966.6 hg19 chr1 235,491,753 235,507,840 16,088
ENST00000282841.9 hg19 chr1 235,491,885 235,507,847 15,963
ENST00000391855.2 hg19 chr1 235,491,886 235,506,453 14,568
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