PCYT1B phosphate cytidylyltransferase 1B, choline

Information
Symbol
PCYT1B
Type
protein-coding
Description
phosphate cytidylyltransferase 1B, choline
Entrez Gene ID
9468
Genome
hg19
Position
chrX:24,576,204-24,665,464
Genome
hg38
Position
chrX:24,558,087-24,647,347
MIM
300948 OMIM
HGNC
HGNC:8755 HGNC
Ensembl
ENSG00000102230 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
not provided 6 0
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
18
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
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 CCTB
SYNONYM CTB
MIM 300948 OMIM
HGNC HGNC:8755 HGNC
Ensembl ENSG00000102230 Ensembl
AllianceGenome HGNC:8755
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000356768.8 hg38 chrX 24,561,842 24,647,158 85,317
ENST00000379144.7 hg38 chrX 24,558,087 24,647,347 89,261
ENST00000379145.5 hg38 chrX 24,558,087 24,672,677 114,591
ENST00000379144.7 hg19 chrX 24,576,204 24,665,464 89,261
ENST00000379145.5 hg19 chrX 24,576,204 24,690,794 114,591
ENST00000356768.8 hg19 chrX 24,579,959 24,665,275 85,317
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