RNF135 ring finger protein 135
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 2 | 34 |
Likely benign | 0 | 46 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 84 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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20 |
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128 |
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6 |
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 | L13 |
SYNONYM | MMFD |
SYNONYM | REUL |
SYNONYM | Riplet |
MIM | 611358 OMIM |
HGNC | HGNC:21158 HGNC |
Ensembl | ENSG00000181481 Ensembl |
AllianceGenome | HGNC:21158 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000443677.6 | hg38 | chr17 | 30,970,984 | 30,999,370 | 28,387 |
ENST00000328381.10 | hg38 | chr17 | 30,971,039 | 30,999,911 | 28,873 |
ENST00000324689.8 | hg38 | chr17 | 30,971,023 | 30,999,909 | 28,887 |
ENST00000535306.6 | hg38 | chr17 | 30,971,060 | 30,999,911 | 28,852 |
ENST00000443677.6 | hg19 | chr17 | 29,298,002 | 29,326,388 | 28,387 |
ENST00000324689.8 | hg19 | chr17 | 29,298,041 | 29,326,927 | 28,887 |
ENST00000328381.10 | hg19 | chr17 | 29,298,057 | 29,326,929 | 28,873 |
ENST00000535306.6 | hg19 | chr17 | 29,298,078 | 29,326,929 | 28,852 |
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