ATP6V1G2 ATPase H+ transporting V1 subunit G2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 3 | 0 |
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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12 |
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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
Locus Zoom
Variants
Search Word
| Target data | : |
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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
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MGeND data only
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| 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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| 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 | ATP6G |
| SYNONYM | ATP6G2 |
| SYNONYM | NG38 |
| SYNONYM | VMA10 |
| MIM | 606853 OMIM |
| HGNC | HGNC:862 HGNC |
| Ensembl | ENSG00000213760 Ensembl |
| AllianceGenome | HGNC:862 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000376151.4 | hg38 | chr6 | 31,544,462 | 31,546,637 | 2,176 |
| ENST00000303892.10 | hg38 | chr6 | 31,544,444 | 31,546,608 | 2,165 |
| ENST00000483251.1 | hg38 | chr6 | 31,545,238 | 31,546,848 | 1,611 |
| ENST00000303892.10 | hg19 | chr6 | 31,512,221 | 31,514,385 | 2,165 |
| ENST00000376151.4 | hg19 | chr6 | 31,512,239 | 31,514,414 | 2,176 |
| ENST00000483251.1 | hg19 | chr6 | 31,513,015 | 31,514,625 | 1,611 |
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