CPT1C carnitine palmitoyltransferase 1C
Information
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 | |
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0 |
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0 |
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62 |
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534 |
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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
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
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 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
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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