PCYT2 phosphate cytidylyltransferase 2, ethanolamine

Information
Symbol
PCYT2
Type
protein-coding
Description
phosphate cytidylyltransferase 2, ethanolamine
Entrez Gene ID
5833
Genome
hg19
Position
chr17:79,862,219-79,869,282
Genome
hg38
Position
chr17:81,904,343-81,911,406
MIM
602679 OMIM
HGNC
HGNC:8756 HGNC
Ensembl
ENSG00000185813 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 10
Benign 0 18
Likely benign 0 14
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 92
Ranking
ClinVar
0
0
16
120
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 ET
SYNONYM SPG82
MIM 602679 OMIM
HGNC HGNC:8756 HGNC
Ensembl ENSG00000185813 Ensembl
AllianceGenome HGNC:8756
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000570391.5 hg38 chr17 81,904,424 81,911,267 6,844
ENST00000571105.5 hg38 chr17 81,904,367 81,911,413 7,047
ENST00000538936.7 hg38 chr17 81,900,958 81,911,399 10,442
ENST00000570388.5 hg38 chr17 81,904,812 81,911,354 6,543
ENST00000331285.7 hg38 chr17 81,904,326 81,911,175 6,850
ENST00000538721.6 hg38 chr17 81,904,343 81,911,406 7,064
ENST00000331285.7 hg19 chr17 79,862,202 79,869,051 6,850
ENST00000538721.6 hg19 chr17 79,862,219 79,869,282 7,064
ENST00000538936.7 hg19 chr17 79,858,834 79,869,275 10,442
ENST00000571105.5 hg19 chr17 79,862,243 79,869,289 7,047
ENST00000570391.5 hg19 chr17 79,862,300 79,869,143 6,844
ENST00000570388.5 hg19 chr17 79,862,688 79,869,230 6,543
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