SRI sorcin
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 24 |
Uncertain significance | 0 | 8 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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34 |
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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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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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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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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 | CP-22 |
SYNONYM | CP22 |
SYNONYM | SCN |
SYNONYM | V19 |
MIM | 182520 OMIM |
HGNC | HGNC:11292 HGNC |
Ensembl | ENSG00000075142 Ensembl |
AllianceGenome | HGNC:11292 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000419179.5 | hg38 | chr7 | 88,205,658 | 88,220,036 | 14,379 |
ENST00000394641.7 | hg38 | chr7 | 88,206,456 | 88,226,993 | 20,538 |
ENST00000490437.5 | hg38 | chr7 | 88,206,438 | 88,226,976 | 20,539 |
ENST00000265729.7 | hg38 | chr7 | 88,205,115 | 88,220,038 | 14,924 |
ENST00000431660.5 | hg38 | chr7 | 88,207,676 | 88,226,976 | 19,301 |
ENST00000265729.7 | hg19 | chr7 | 87,834,430 | 87,849,353 | 14,924 |
ENST00000419179.5 | hg19 | chr7 | 87,834,973 | 87,849,351 | 14,379 |
ENST00000490437.5 | hg19 | chr7 | 87,835,753 | 87,856,291 | 20,539 |
ENST00000394641.7 | hg19 | chr7 | 87,835,771 | 87,856,308 | 20,538 |
ENST00000431660.5 | hg19 | chr7 | 87,836,991 | 87,856,291 | 19,301 |
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