CPT1C carnitine palmitoyltransferase 1C

Information
Symbol
CPT1C
Type
protein-coding
Description
carnitine palmitoyltransferase 1C
Entrez Gene ID
126129
Genome
hg19
Position
chr19:50,194,373-50,216,988
Genome
hg38
Position
chr19:49,691,116-49,713,731
MIM
608846 OMIM
HGNC
HGNC:18540 HGNC
Ensembl
ENSG00000169169 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 10
Benign 0 40
Likely benign 0 248
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 292
Ranking
ClinVar
0
0
62
534
2
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 :
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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
SYNONYM CATL1
SYNONYM CPT I-C
SYNONYM CPT1-B
SYNONYM CPT1P
SYNONYM CPTI-B
SYNONYM CPTIC
SYNONYM SPG73
MIM 608846 OMIM
HGNC HGNC:18540 HGNC
Ensembl ENSG00000169169 Ensembl
AllianceGenome HGNC:18540
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392518.8 hg38 chr19 49,691,116 49,713,731 22,616
ENST00000405931.6 hg38 chr19 49,691,144 49,713,731 22,588
ENST00000323446.9 hg38 chr19 49,691,110 49,713,731 22,622
ENST00000598293.6 hg38 chr19 49,691,116 49,713,731 22,616
ENST00000323446.9 hg19 chr19 50,194,367 50,216,988 22,622
ENST00000392518.8 hg19 chr19 50,194,373 50,216,988 22,616
ENST00000405931.6 hg19 chr19 50,194,401 50,216,988 22,588
ENST00000598293.6 hg19 chr19 50,194,373 50,216,988 22,616
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