SCAF11 SR-related CTD associated factor 11
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 14 |
not provided | 2 | 0 |
Uncertain significance | 0 | 138 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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158 |
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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
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 |
Search Word
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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Search word | : | |
Filtering | : |
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 | CASP11 |
SYNONYM | SFRS2IP |
SYNONYM | SIP1 |
SYNONYM | SRRP129 |
SYNONYM | SRSF2IP |
MIM | 603668 OMIM |
HGNC | HGNC:10784 HGNC |
Ensembl | ENSG00000139218 Ensembl |
AllianceGenome | HGNC:10784 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000369367.8 | hg38 | chr12 | 45,919,131 | 45,990,574 | 71,444 |
ENST00000395453.2 | hg38 | chr12 | 45,960,455 | 45,990,580 | 30,126 |
ENST00000395454.6 | hg38 | chr12 | 45,954,734 | 45,990,584 | 35,851 |
ENST00000465950.5 | hg38 | chr12 | 45,921,409 | 45,929,965 | 8,557 |
ENST00000549162.5 | hg38 | chr12 | 45,922,048 | 45,934,510 | 12,463 |
ENST00000369367.8 | hg19 | chr12 | 46,312,914 | 46,384,357 | 71,444 |
ENST00000465950.5 | hg19 | chr12 | 46,315,192 | 46,323,748 | 8,557 |
ENST00000549162.5 | hg19 | chr12 | 46,315,831 | 46,328,293 | 12,463 |
ENST00000395454.6 | hg19 | chr12 | 46,348,517 | 46,384,367 | 35,851 |
ENST00000395453.2 | hg19 | chr12 | 46,354,238 | 46,384,363 | 30,126 |
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