SKP2 S-phase kinase associated protein 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 14 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 36 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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52 |
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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 |
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 | FBL1 |
SYNONYM | FBXL1 |
SYNONYM | FLB1 |
SYNONYM | p45 |
MIM | 601436 OMIM |
HGNC | HGNC:10901 HGNC |
Ensembl | ENSG00000145604 Ensembl |
AllianceGenome | HGNC:10901 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000274254.9 | hg38 | chr5 | 36,151,989 | 36,184,041 | 32,053 |
ENST00000546211.6 | hg38 | chr5 | 36,152,083 | 36,183,996 | 31,914 |
ENST00000678270.1 | hg38 | chr5 | 36,152,095 | 36,196,617 | 44,523 |
ENST00000620197.5 | hg38 | chr5 | 36,152,084 | 36,184,011 | 31,928 |
ENST00000678580.1 | hg38 | chr5 | 36,152,111 | 36,183,960 | 31,850 |
ENST00000274255.11 | hg38 | chr5 | 36,152,111 | 36,184,319 | 32,209 |
ENST00000508514.5 | hg38 | chr5 | 36,152,122 | 36,182,057 | 29,936 |
ENST00000679015.1 | hg38 | chr5 | 36,152,103 | 36,182,530 | 30,428 |
ENST00000274254.9 | hg19 | chr5 | 36,152,091 | 36,184,143 | 32,053 |
ENST00000274255.11 | hg19 | chr5 | 36,152,213 | 36,184,421 | 32,209 |
ENST00000508514.5 | hg19 | chr5 | 36,152,224 | 36,182,159 | 29,936 |
ENST00000546211.6 | hg19 | chr5 | 36,152,185 | 36,184,098 | 31,914 |
ENST00000620197.5 | hg19 | chr5 | 36,152,186 | 36,184,113 | 31,928 |
ENST00000678270.1 | hg19 | chr5 | 36,152,197 | 36,196,719 | 44,523 |
ENST00000679015.1 | hg19 | chr5 | 36,152,205 | 36,182,632 | 30,428 |
ENST00000678580.1 | hg19 | chr5 | 36,152,213 | 36,184,062 | 31,850 |
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