NDUFB3 NADH:ubiquinone oxidoreductase subunit B3
Information
- Symbol
- NDUFB3
- Type
- protein-coding
- Description
- NADH:ubiquinone oxidoreductase subunit B3
- Entrez Gene ID
- 4709
- Genome
- hg19
- Position
- chr2:201,936,747-201,950,457
- Genome
- hg38
- Position
- chr2:201,072,024-201,085,734
- MIM
- 603839 OMIM
- HGNC
- HGNC:7698 HGNC
- Ensembl
- ENSG00000119013 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 6 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 14 |
| Likely benign | 0 | 8 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 40 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
18 |
 |
52 |
 |
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
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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
|
| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | B12 |
| SYNONYM | CI-B12 |
| SYNONYM | MC1DN25 |
| MIM | 603839 OMIM |
| HGNC | HGNC:7698 HGNC |
| Ensembl | ENSG00000119013 Ensembl |
| AllianceGenome | HGNC:7698 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000454214.1 | hg38 | chr2 | 201,072,030 | 201,085,750 | 13,721 |
| ENST00000684175.1 | hg38 | chr2 | 201,072,022 | 201,085,750 | 13,729 |
| ENST00000684420.1 | hg38 | chr2 | 201,072,052 | 201,085,745 | 13,694 |
| ENST00000450023.6 | hg38 | chr2 | 201,071,433 | 201,085,615 | 14,183 |
| ENST00000682325.1 | hg38 | chr2 | 201,072,024 | 201,085,734 | 13,711 |
| ENST00000433898.5 | hg38 | chr2 | 201,072,008 | 201,085,744 | 13,737 |
| ENST00000237889.9 | hg38 | chr2 | 201,072,001 | 201,085,750 | 13,750 |
| ENST00000450023.6 | hg19 | chr2 | 201,936,156 | 201,950,338 | 14,183 |
| ENST00000237889.9 | hg19 | chr2 | 201,936,724 | 201,950,473 | 13,750 |
| ENST00000433898.5 | hg19 | chr2 | 201,936,731 | 201,950,467 | 13,737 |
| ENST00000684175.1 | hg19 | chr2 | 201,936,745 | 201,950,473 | 13,729 |
| ENST00000682325.1 | hg19 | chr2 | 201,936,747 | 201,950,457 | 13,711 |
| ENST00000454214.1 | hg19 | chr2 | 201,936,753 | 201,950,473 | 13,721 |
| ENST00000684420.1 | hg19 | chr2 | 201,936,775 | 201,950,468 | 13,694 |
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