SYVN1 synoviolin 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 54 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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62 |
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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
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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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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | DER3 |
SYNONYM | HRD1 |
MIM | 608046 OMIM |
HGNC | HGNC:20738 HGNC |
Ensembl | ENSG00000162298 Ensembl |
AllianceGenome | HGNC:20738 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000294256.12 | hg38 | chr11 | 65,127,279 | 65,134,532 | 7,254 |
ENST00000526060.5 | hg38 | chr11 | 65,127,282 | 65,134,429 | 7,148 |
ENST00000307289.10 | hg38 | chr11 | 65,127,281 | 65,134,480 | 7,200 |
ENST00000377190.8 | hg38 | chr11 | 65,127,279 | 65,134,519 | 7,241 |
ENST00000377190.8 | hg19 | chr11 | 64,894,751 | 64,901,990 | 7,240 |
ENST00000294256.12 | hg19 | chr11 | 64,894,751 | 64,902,003 | 7,253 |
ENST00000307289.10 | hg19 | chr11 | 64,894,753 | 64,901,951 | 7,199 |
ENST00000526060.5 | hg19 | chr11 | 64,894,754 | 64,901,900 | 7,147 |
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