SPHK2 sphingosine kinase 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 10 |
Likely benign | 0 | 14 |
Uncertain significance | 0 | 108 |
Ranking
ClinVar | |
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0 |
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0 |
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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
[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 | SK 2 |
SYNONYM | SK-2 |
SYNONYM | SPK 2 |
SYNONYM | SPK-2 |
MIM | 607092 OMIM |
HGNC | HGNC:18859 HGNC |
Ensembl | ENSG00000063176 Ensembl |
AllianceGenome | HGNC:18859 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000340932.7 | hg38 | chr19 | 48,619,291 | 48,630,406 | 11,116 |
ENST00000245222.9 | hg38 | chr19 | 48,619,506 | 48,630,405 | 10,900 |
ENST00000598088.5 | hg38 | chr19 | 48,619,534 | 48,630,405 | 10,872 |
ENST00000599029.2 | hg38 | chr19 | 48,624,969 | 48,630,717 | 5,749 |
ENST00000599748.5 | hg38 | chr19 | 48,624,952 | 48,630,405 | 5,454 |
ENST00000601712.5 | hg38 | chr19 | 48,619,450 | 48,628,651 | 9,202 |
ENST00000600537.5 | hg38 | chr19 | 48,619,452 | 48,629,916 | 10,465 |
ENST00000340932.7 | hg19 | chr19 | 49,122,548 | 49,133,663 | 11,116 |
ENST00000601712.5 | hg19 | chr19 | 49,122,707 | 49,131,908 | 9,202 |
ENST00000600537.5 | hg19 | chr19 | 49,122,709 | 49,133,173 | 10,465 |
ENST00000245222.9 | hg19 | chr19 | 49,122,763 | 49,133,662 | 10,900 |
ENST00000598088.5 | hg19 | chr19 | 49,122,791 | 49,133,662 | 10,872 |
ENST00000599748.5 | hg19 | chr19 | 49,128,209 | 49,133,662 | 5,454 |
ENST00000599029.2 | hg19 | chr19 | 49,128,226 | 49,133,974 | 5,749 |
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