PGS1 phosphatidylglycerophosphate synthase 1

Information
Symbol
PGS1
Type
protein-coding
Description
phosphatidylglycerophosphate synthase 1
Entrez Gene ID
9489
Genome
hg19
Position
chr17:76,374,730-76,420,740
Genome
hg38
Position
chr17:78,378,649-78,424,659
MIM
614942 OMIM
HGNC
HGNC:30029 HGNC
Ensembl
ENSG00000087157 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 14
Uncertain significance 0 80
Ranking
ClinVar
0
0
6
98
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 :
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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
MIM 614942 OMIM
HGNC HGNC:30029 HGNC
Ensembl ENSG00000087157 Ensembl
AllianceGenome HGNC:30029
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000262764.11 hg38 chr17 78,378,649 78,424,659 46,011
ENST00000262764.11 hg19 chr17 76,374,730 76,420,740 46,011
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