RTL8C retrotransposon Gag like 8C
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 6 | 0 |
| Uncertain significance | 0 | 2 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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2 |
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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 | : |
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
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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 | CXX1 |
| SYNONYM | FAM127A |
| SYNONYM | MAR8C |
| SYNONYM | MART8C |
| SYNONYM | Mar8 |
| SYNONYM | Mart8 |
| SYNONYM | SIRH5 |
| MIM | 300213 OMIM |
| HGNC | HGNC:2569 HGNC |
| Ensembl | ENSG00000134590 Ensembl |
| AllianceGenome | HGNC:2569 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000257013.9 | hg38 | chrX | 135,032,355 | 135,033,546 | 1,192 |
| ENST00000257013.9 | hg19 | chrX | 134,166,385 | 134,167,576 | 1,192 |
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