Variant Details for CPT1B
Basic Information Top
| Gene Symbol: | CPT1B ( CPT1-M,CPT1M,CPTI,CPTI-M,FLJ55729,FLJ58750,KIAA1670,M-CPT1,MCCPT1,MCPT1 ) |
|---|---|
| Gene Full Name: | carnitine palmitoyltransferase 1B (muscle) |
| Band: | 22q13.33 |
| Quick Links | Entrez ID:1375; OMIM: 601987; Uniprot ID:CPT1B_HUMAN; ENSEMBL ID: ENSG00000205560; HGNC ID: 2329 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 12 | 1 | 0 | 1 | 0 | 0 | 14 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000296 | 22 | 22q13.3 | 44268667 | 51244566 | 6975899 | loss | external link | Goizet, 2000 |
| AutCNV0000282 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | loss | external link | Prasad, 2000 |
| AutCNV0000277 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | gain | external link | Wassink, 2001 |
| AutCNV0000015 | 22 | 22q13.31-13.33 | 46823508 | 51175739 | 4352231 | loss | external link | Sebat, 2007 |
| AutCNV0000160 | 22 | 22q13.33 | 50953103 | 51229805 | 276702 | loss | external link | Marshall, 2008 |
| AutCNV0000159 | 22 | 22q13.31-13.33 | 47956881 | 51218956 | 3262075 | loss | external link | Marshall, 2008 |
| AutCNV0000386 | 22 | 22q13.33 | Zwaag, 2009 | |||||
| AutCNV0000385 | 22 | 22q13.33 | Zwaag, 2009 | |||||
| AutCNV0004395 | 22 | 22q13.31-q13.33 | 46765363 | 51119017 | 4353654 | loss | external link | Sanders, 2011 |
| AutCNV0000710 | 22 | 22q13.2-qter | loss | Chen, 2011 | ||||
| AutCNV0004397 | 22 | 22q13.33 | 50896381 | 51173083 | 276702 | loss | external link | Sanders, 2011 |
| AutCNV0004396 | 22 | 22q13.31-q13.33 | 47898736 | 51162234 | 3263498 | loss | external link | Sanders, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 51015426 | G | A | Sanger sequencing | neutral | 0.2495 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 51015372 | C | A | c.373C>A | p.Arg125Ser | Bi C, 2012 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||