IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
Information
- Symbol
- IDH3B
- Type
- protein-coding
- Description
- isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
- Entrez Gene ID
- 3420
- Genome
- hg19
- Position
- chr20:2,639,041-2,644,835
- Genome
- hg38
- Position
- chr20:2,658,395-2,664,189
- MIM
- 604526 OMIM
- HGNC
- HGNC:5385 HGNC
- Ensembl
- ENSG00000101365 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 10 |
| Likely pathogenic | 0 | 4 |
| Benign | 0 | 30 |
| Likely benign | 0 | 202 |
| Conflicting classifications of pathogenicity | 0 | 36 |
| Uncertain significance | 0 | 314 |
Ranking
| ClinVar | |
|---|---|
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0 |
![]() |
0 |
![]() |
48 |
![]() |
502 |
![]() |
4 |
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
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| 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
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| Category | : |
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | RP46 |
| MIM | 604526 OMIM |
| HGNC | HGNC:5385 HGNC |
| Ensembl | ENSG00000101365 Ensembl |
| AllianceGenome | HGNC:5385 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000380851.9 | hg38 | chr20 | 2,658,395 | 2,664,219 | 5,825 |
| ENST00000380843.9 | hg38 | chr20 | 2,658,395 | 2,664,216 | 5,822 |
| ENST00000613370.1 | hg38 | chr20 | 2,659,015 | 2,664,219 | 5,205 |
| ENST00000474315.5 | hg38 | chr20 | 2,658,395 | 2,664,189 | 5,795 |
| ENST00000474315.5 | hg19 | chr20 | 2,639,041 | 2,644,835 | 5,795 |
| ENST00000380843.9 | hg19 | chr20 | 2,639,041 | 2,644,862 | 5,822 |
| ENST00000380851.9 | hg19 | chr20 | 2,639,041 | 2,644,865 | 5,825 |
| ENST00000613370.1 | hg19 | chr20 | 2,639,661 | 2,644,865 | 5,205 |
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