CHPT1 choline phosphotransferase 1

Information
Symbol
CHPT1
Type
protein-coding
Description
choline phosphotransferase 1
Entrez Gene ID
56994
Genome
hg19
Position
chr12:102,091,418-102,122,852
Genome
hg38
Position
chr12:101,697,640-101,729,074
MIM
616747 OMIM
HGNC
HGNC:17852 HGNC
Ensembl
ENSG00000111666 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Uncertain significance 0 38
Ranking
ClinVar
0
0
2
46
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
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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 :
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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 :
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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 CPT
SYNONYM CPT1
MIM 616747 OMIM
HGNC HGNC:17852 HGNC
Ensembl ENSG00000111666 Ensembl
AllianceGenome HGNC:17852
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000229266.8 hg38 chr12 101,697,640 101,729,074 31,435
ENST00000549872.5 hg38 chr12 101,697,672 101,727,039 29,368
ENST00000229266.8 hg19 chr12 102,091,418 102,122,852 31,435
ENST00000549872.5 hg19 chr12 102,091,450 102,120,817 29,368
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