ERVH48-1 endogenous retrovirus group 48 member 1, envelope
Information
- Symbol
- ERVH48-1
- Type
- protein-coding
- Description
- endogenous retrovirus group 48 member 1, envelope
- Entrez Gene ID
- 90625
- Genome
- hg19
- Position
- chr21:44,336,913-44,345,740
- Genome
- hg38
- Position
- chr21:42,916,803-42,925,630
- HGNC
- HGNC:17216 HGNC
- Ensembl
- ENSG00000233056 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar |
|---|
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
0 |
 |
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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| 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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| 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 | C21orf105 |
| SYNONYM | NDUFV3-AS1 |
| SYNONYM | SUPYN |
| HGNC | HGNC:17216 HGNC |
| Ensembl | ENSG00000233056 Ensembl |
| AllianceGenome | HGNC:17216 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000447535.2 | hg38 | chr21 | 42,916,803 | 42,925,630 | 8,828 |
| ENST00000447535.2 | hg19 | chr21 | 44,336,913 | 44,345,740 | 8,828 |
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