SRPK3 SRSF protein kinase 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 14 |
Likely benign | 0 | 16 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 104 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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132 |
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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 |
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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 | MSSK-1 |
SYNONYM | MSSK1 |
SYNONYM | STK23 |
MIM | 301002 OMIM |
HGNC | HGNC:11402 HGNC |
Ensembl | ENSG00000184343 Ensembl |
AllianceGenome | HGNC:11402 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000393786.7 | hg38 | chrX | 153,781,001 | 153,785,732 | 4,732 |
ENST00000370104.5 | hg38 | chrX | 153,781,039 | 153,785,524 | 4,486 |
ENST00000370108.7 | hg38 | chrX | 153,781,039 | 153,785,730 | 4,692 |
ENST00000370100.5 | hg38 | chrX | 153,781,116 | 153,785,728 | 4,613 |
ENST00000370101.8 | hg38 | chrX | 153,781,041 | 153,785,730 | 4,690 |
ENST00000489426.5 | hg38 | chrX | 153,776,412 | 153,785,728 | 9,317 |
ENST00000489426.5 | hg19 | chrX | 153,041,867 | 153,051,183 | 9,317 |
ENST00000393786.7 | hg19 | chrX | 153,046,456 | 153,051,187 | 4,732 |
ENST00000370104.5 | hg19 | chrX | 153,046,494 | 153,050,979 | 4,486 |
ENST00000370108.7 | hg19 | chrX | 153,046,494 | 153,051,185 | 4,692 |
ENST00000370101.8 | hg19 | chrX | 153,046,496 | 153,051,185 | 4,690 |
ENST00000370100.5 | hg19 | chrX | 153,046,571 | 153,051,183 | 4,613 |
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