SURF1 SURF1 cytochrome c oxidase assembly factor
Information
- Symbol
- SURF1
- Type
- protein-coding
- Description
- SURF1 cytochrome c oxidase assembly factor
- Entrez Gene ID
- 6834
- Genome
- hg19
- Position
- chr9:136,218,613-136,223,363
- Genome
- hg38
- Position
- chr9:133,351,758-133,356,487
- MIM
- 185620 OMIM
- HGNC
- HGNC:11474 HGNC
- Ensembl
- ENSG00000148290 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 19 | 204 |
| Likely pathogenic | 0 | 76 |
| Benign | 0 | 44 |
| Likely benign | 0 | 622 |
| Conflicting classifications of pathogenicity | 0 | 60 |
| Uncertain significance | 1 | 368 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
198 |
 |
1,062 |
 |
20 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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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| 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 | CMT4K |
| SYNONYM | MC4DN1 |
| SYNONYM | SHY1 |
| MIM | 185620 OMIM |
| HGNC | HGNC:11474 HGNC |
| Ensembl | ENSG00000148290 Ensembl |
| AllianceGenome | HGNC:11474 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000615505.4 | hg38 | chr9 | 133,351,805 | 133,356,485 | 4,681 |
| ENST00000371974.8 | hg38 | chr9 | 133,351,758 | 133,356,487 | 4,730 |
| ENST00000371974.8 | hg19 | chr9 | 136,218,613 | 136,223,363 | 4,751 |
| ENST00000615505.4 | hg19 | chr9 | 136,218,660 | 136,223,361 | 4,702 |
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