GNPAT glyceronephosphate O-acyltransferase

Information
Symbol
GNPAT
Type
protein-coding
Description
glyceronephosphate O-acyltransferase
Entrez Gene ID
8443
Genome
hg19
Position
chr1:231,376,958-231,413,719
Genome
hg38
Position
chr1:231,241,212-231,277,973
MIM
602744 OMIM
HGNC
HGNC:4416 HGNC
Ensembl
ENSG00000116906 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 48
Likely pathogenic 0 60
Benign 0 72
Likely benign 0 524
Conflicting classifications of pathogenicity 0 42
not provided 0 2
Uncertain significance 0 256
Ranking
ClinVar
0
0
108
824
6
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
SYNONYM DAP-AT
SYNONYM DAPAT
SYNONYM DHAPAT
SYNONYM RCDP2
MIM 602744 OMIM
HGNC HGNC:4416 HGNC
Ensembl ENSG00000116906 Ensembl
AllianceGenome HGNC:4416
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000366647.9 hg38 chr1 231,241,212 231,277,973 36,762
ENST00000366647.9 hg19 chr1 231,376,958 231,413,719 36,762
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