FOXL2 forkhead box L2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 10 | 214 |
Likely pathogenic | 0 | 66 |
Benign | 2 | 26 |
Likely benign | 0 | 30 |
Conflicting classifications of pathogenicity | 0 | 4 |
not provided | 24 | 4 |
Uncertain significance | 0 | 114 |
Ranking
ClinVar | |
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0 |
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0 |
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54 |
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282 |
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102 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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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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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 | BPES |
SYNONYM | BPES1 |
SYNONYM | PFRK |
SYNONYM | PINTO |
SYNONYM | POF3 |
MIM | 605597 OMIM |
HGNC | HGNC:1092 HGNC |
Ensembl | ENSG00000183770 Ensembl |
AllianceGenome | HGNC:1092 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000648323.1 | hg38 | chr3 | 138,944,224 | 138,947,137 | 2,914 |
ENST00000648323.1 | hg19 | chr3 | 138,663,066 | 138,665,979 | 2,914 |
Key | Value |
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strand | - |
start | 138,663,065 |
Vogelstein | OG |
Gene Symbol | FOXL2 |
Entrez GeneId | 668 |
Chr Band | 3q23 |
end | 138,665,981 |
chr | chr3 |
Name | forkhead box L2 |
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