NDUFA12 NADH:ubiquinone oxidoreductase subunit A12
Information
- Symbol
- NDUFA12
- Type
- protein-coding
- Description
- NADH:ubiquinone oxidoreductase subunit A12
- Entrez Gene ID
- 55967
- Genome
- hg19
- Position
- chr12:95,365,109-95,397,473
- Genome
- hg38
- Position
- chr12:94,971,333-95,003,697
- MIM
- 614530 OMIM
- HGNC
- HGNC:23987 HGNC
- Ensembl
- ENSG00000184752 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 20 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 18 |
| Likely benign | 0 | 46 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
24 |
 |
112 |
 |
12 |
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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| 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 | B17.2 |
| SYNONYM | DAP13 |
| SYNONYM | MC1DN23 |
| MIM | 614530 OMIM |
| HGNC | HGNC:23987 HGNC |
| Ensembl | ENSG00000184752 Ensembl |
| AllianceGenome | HGNC:23987 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000327772.7 | hg38 | chr12 | 94,971,333 | 95,003,697 | 32,365 |
| ENST00000684171.1 | hg38 | chr12 | 94,971,328 | 95,003,713 | 32,386 |
| ENST00000547157.1 | hg38 | chr12 | 94,971,332 | 95,003,700 | 32,369 |
| ENST00000547986.5 | hg38 | chr12 | 94,971,336 | 95,003,713 | 32,378 |
| ENST00000684171.1 | hg19 | chr12 | 95,365,104 | 95,397,489 | 32,386 |
| ENST00000547157.1 | hg19 | chr12 | 95,365,108 | 95,397,476 | 32,369 |
| ENST00000327772.7 | hg19 | chr12 | 95,365,109 | 95,397,473 | 32,365 |
| ENST00000547986.5 | hg19 | chr12 | 95,365,112 | 95,397,489 | 32,378 |
Genome browser