RNF139 ring finger protein 139
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 2 | 0 |
Uncertain significance | 10 | 56 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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54 |
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2 |
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 | |||||
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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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SYNONYM | HRCA1 |
SYNONYM | RCA1 |
SYNONYM | TRC8 |
MIM | 603046 OMIM |
HGNC | HGNC:17023 HGNC |
Ensembl | ENSG00000170881 Ensembl |
AllianceGenome | HGNC:17023 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000303545.4 | hg38 | chr8 | 124,474,880 | 124,488,618 | 13,739 |
ENST00000303545.4 | hg19 | chr8 | 125,487,121 | 125,500,859 | 13,739 |
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