RNF208 ring finger protein 208
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 32 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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32 |
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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
[No Data.]
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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MIM | 618993 OMIM |
HGNC | HGNC:25420 HGNC |
Ensembl | ENSG00000212864 Ensembl |
AllianceGenome | HGNC:25420 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000391553.3 | hg38 | chr9 | 137,220,259 | 137,222,240 | 1,982 |
ENST00000392827.2 | hg38 | chr9 | 137,220,247 | 137,221,581 | 1,335 |
ENST00000392827.2 | hg19 | chr9 | 140,114,699 | 140,116,033 | 1,335 |
ENST00000391553.3 | hg19 | chr9 | 140,114,711 | 140,116,692 | 1,982 |
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