ATP5MC1 ATP synthase membrane subunit c locus 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 18 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
18 |
 |
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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| 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 | ATP5A |
| SYNONYM | ATP5G |
| SYNONYM | ATP5G1 |
| MIM | 603192 OMIM |
| HGNC | HGNC:841 HGNC |
| Ensembl | ENSG00000159199 Ensembl |
| AllianceGenome | HGNC:841 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000514808.5 | hg38 | chr17 | 48,892,802 | 48,895,349 | 2,548 |
| ENST00000506855.1 | hg38 | chr17 | 48,892,817 | 48,895,871 | 3,055 |
| ENST00000355938.9 | hg38 | chr17 | 48,892,765 | 48,895,871 | 3,107 |
| ENST00000393366.7 | hg38 | chr17 | 48,892,787 | 48,895,871 | 3,085 |
| ENST00000503641.5 | hg38 | chr17 | 48,892,797 | 48,895,871 | 3,075 |
| ENST00000355938.9 | hg19 | chr17 | 46,970,127 | 46,973,233 | 3,107 |
| ENST00000393366.7 | hg19 | chr17 | 46,970,149 | 46,973,233 | 3,085 |
| ENST00000503641.5 | hg19 | chr17 | 46,970,159 | 46,973,233 | 3,075 |
| ENST00000514808.5 | hg19 | chr17 | 46,970,164 | 46,972,711 | 2,548 |
| ENST00000506855.1 | hg19 | chr17 | 46,970,179 | 46,973,233 | 3,055 |
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