NDUFA13 NADH:ubiquinone oxidoreductase subunit A13
Information
- Symbol
- NDUFA13
- Type
- protein-coding
- Description
- NADH:ubiquinone oxidoreductase subunit A13
- Entrez Gene ID
- 51079
- Genome
- hg19
- Position
- chr19:19,627,034-19,639,007
- Genome
- hg38
- Position
- chr19:19,516,225-19,528,198
- MIM
- 609435 OMIM
- HGNC
- HGNC:17194 HGNC
- Ensembl
- ENSG00000186010 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 8 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 8 |
Likely benign | 0 | 28 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 74 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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10 |
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108 |
![]() |
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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Category | : |
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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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 | B16.6 |
SYNONYM | CDA016 |
SYNONYM | CGI-39 |
SYNONYM | GRIM-19 |
SYNONYM | GRIM19 |
SYNONYM | MC1DN28 |
MIM | 609435 OMIM |
HGNC | HGNC:17194 HGNC |
Ensembl | ENSG00000186010 Ensembl |
AllianceGenome | HGNC:17194 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000503283.5 | hg38 | chr19 | 19,516,228 | 19,529,054 | 12,827 |
ENST00000507754.9 | hg38 | chr19 | 19,516,225 | 19,528,198 | 11,974 |
ENST00000428459.6 | hg38 | chr19 | 19,516,230 | 19,528,022 | 11,793 |
ENST00000507754.9 | hg19 | chr19 | 19,627,034 | 19,639,007 | 11,974 |
ENST00000503283.5 | hg19 | chr19 | 19,627,037 | 19,639,863 | 12,827 |
ENST00000428459.6 | hg19 | chr19 | 19,627,039 | 19,638,831 | 11,793 |
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