NDUFA3 NADH:ubiquinone oxidoreductase subunit A3
Information
- Symbol
- NDUFA3
- Type
- protein-coding
- Description
- NADH:ubiquinone oxidoreductase subunit A3
- Entrez Gene ID
- 4696
- Genome
- hg19
- Position
- chr19:54,606,163-54,610,875
- Genome
- hg38
- Position
- chr19:54,102,855-54,107,568
- MIM
- 603832 OMIM
- HGNC
- HGNC:7686 HGNC
- Ensembl
- ENSG00000170906 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 28 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
30 |
 |
0 |
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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| 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 | B9 |
| SYNONYM | CI-B9 |
| MIM | 603832 OMIM |
| HGNC | HGNC:7686 HGNC |
| Ensembl | ENSG00000170906 Ensembl |
| AllianceGenome | HGNC:7686 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000471292.5 | hg38 | chr19 | 54,102,855 | 54,106,470 | 3,616 |
| ENST00000391764.7 | hg38 | chr19 | 54,102,869 | 54,108,533 | 5,665 |
| ENST00000391762.5 | hg38 | chr19 | 54,102,852 | 54,106,961 | 4,110 |
| ENST00000391763.3 | hg38 | chr19 | 54,102,869 | 54,106,965 | 4,097 |
| ENST00000303553.5 | hg38 | chr19 | 54,102,885 | 54,106,961 | 4,077 |
| ENST00000485876.6 | hg38 | chr19 | 54,102,855 | 54,107,568 | 4,714 |
| ENST00000391762.5 | hg19 | chr19 | 54,606,160 | 54,610,268 | 4,109 |
| ENST00000471292.5 | hg19 | chr19 | 54,606,163 | 54,609,777 | 3,615 |
| ENST00000485876.6 | hg19 | chr19 | 54,606,163 | 54,610,875 | 4,713 |
| ENST00000391763.3 | hg19 | chr19 | 54,606,177 | 54,610,272 | 4,096 |
| ENST00000391764.7 | hg19 | chr19 | 54,606,177 | 54,611,840 | 5,664 |
| ENST00000303553.5 | hg19 | chr19 | 54,606,193 | 54,610,268 | 4,076 |
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