NDUFC1 NADH:ubiquinone oxidoreductase subunit C1
Information
- Symbol
- NDUFC1
- Type
- protein-coding
- Description
- NADH:ubiquinone oxidoreductase subunit C1
- Entrez Gene ID
- 4717
- Genome
- hg19
- Position
- chr4:140,211,071-140,222,364
- Genome
- hg38
- Position
- chr4:139,289,917-139,301,210
- MIM
- 603844 OMIM
- HGNC
- HGNC:7705 HGNC
- Ensembl
- ENSG00000109390 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 8 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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32 |
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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 | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | KFYI |
MIM | 603844 OMIM |
HGNC | HGNC:7705 HGNC |
Ensembl | ENSG00000109390 Ensembl |
AllianceGenome | HGNC:7705 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000394228.5 | hg38 | chr4 | 139,289,917 | 139,302,551 | 12,635 |
ENST00000394223.2 | hg38 | chr4 | 139,289,931 | 139,302,477 | 12,547 |
ENST00000539002.5 | hg38 | chr4 | 139,289,917 | 139,301,210 | 11,294 |
ENST00000544855.5 | hg38 | chr4 | 139,289,917 | 139,301,210 | 11,294 |
ENST00000676245.1 | hg38 | chr4 | 139,290,020 | 139,302,477 | 12,458 |
ENST00000539387.5 | hg38 | chr4 | 139,289,917 | 139,302,551 | 12,635 |
ENST00000505036.5 | hg38 | chr4 | 139,289,938 | 139,301,204 | 11,267 |
ENST00000539002.5 | hg19 | chr4 | 140,211,071 | 140,222,364 | 11,294 |
ENST00000544855.5 | hg19 | chr4 | 140,211,071 | 140,222,364 | 11,294 |
ENST00000394228.5 | hg19 | chr4 | 140,211,071 | 140,223,705 | 12,635 |
ENST00000539387.5 | hg19 | chr4 | 140,211,071 | 140,223,705 | 12,635 |
ENST00000394223.2 | hg19 | chr4 | 140,211,085 | 140,223,631 | 12,547 |
ENST00000505036.5 | hg19 | chr4 | 140,211,092 | 140,222,358 | 11,267 |
ENST00000676245.1 | hg19 | chr4 | 140,211,174 | 140,223,631 | 12,458 |
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