SCAF1 SR-related CTD associated factor 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 8 |
Likely benign | 0 | 16 |
Uncertain significance | 0 | 190 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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214 |
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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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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 |
---|---|
SYNONYM | SRA1 |
MIM | 617264 OMIM |
HGNC | HGNC:30403 HGNC |
Ensembl | ENSG00000126461 Ensembl |
AllianceGenome | HGNC:30403 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000360565.8 | hg38 | chr19 | 49,642,209 | 49,658,642 | 16,434 |
ENST00000360565.8 | hg19 | chr19 | 50,145,466 | 50,161,899 | 16,434 |
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