RNF34 ring finger protein 34
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 36 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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46 |
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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.]
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 |
---|---|
SYNONYM | CARP-1 |
SYNONYM | CARP1 |
SYNONYM | RFI |
SYNONYM | RIF |
SYNONYM | RIFF |
SYNONYM | hRFI |
MIM | 608299 OMIM |
HGNC | HGNC:17297 HGNC |
Ensembl | ENSG00000170633 Ensembl |
AllianceGenome | HGNC:17297 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000555076.1 | hg38 | chr12 | 121,400,147 | 121,423,906 | 23,760 |
ENST00000392465.7 | hg38 | chr12 | 121,400,119 | 121,424,348 | 24,230 |
ENST00000392464.3 | hg38 | chr12 | 121,400,144 | 121,430,623 | 30,480 |
ENST00000613529.4 | hg38 | chr12 | 121,400,083 | 121,424,352 | 24,270 |
ENST00000361234.10 | hg38 | chr12 | 121,400,118 | 121,424,348 | 24,231 |
ENST00000613529.4 | hg19 | chr12 | 121,837,886 | 121,862,155 | 24,270 |
ENST00000361234.10 | hg19 | chr12 | 121,837,921 | 121,862,151 | 24,231 |
ENST00000392465.7 | hg19 | chr12 | 121,837,922 | 121,862,151 | 24,230 |
ENST00000392464.3 | hg19 | chr12 | 121,837,947 | 121,868,426 | 30,480 |
ENST00000555076.1 | hg19 | chr12 | 121,837,950 | 121,861,709 | 23,760 |
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