FOLR1 folate receptor alpha
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 28 |
Likely pathogenic | 2 | 18 |
Benign | 0 | 26 |
Likely benign | 0 | 172 |
Conflicting classifications of pathogenicity | 0 | 32 |
Uncertain significance | 0 | 232 |
Ranking
ClinVar | |
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0 |
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0 |
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82 |
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380 |
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6 |
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
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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 | FBP |
SYNONYM | FOLR |
SYNONYM | FRalpha |
SYNONYM | NCFTD |
MIM | 136430 OMIM |
HGNC | HGNC:3791 HGNC |
Ensembl | ENSG00000110195 Ensembl |
AllianceGenome | HGNC:3791 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000312293.9 | hg38 | chr11 | 72,189,558 | 72,196,323 | 6,766 |
ENST00000675784.1 | hg38 | chr11 | 72,189,915 | 72,196,323 | 6,409 |
ENST00000393681.6 | hg38 | chr11 | 72,189,668 | 72,196,298 | 6,631 |
ENST00000393679.5 | hg38 | chr11 | 72,190,214 | 72,196,298 | 6,085 |
ENST00000393676.5 | hg38 | chr11 | 72,192,140 | 72,196,299 | 4,160 |
ENST00000312293.9 | hg19 | chr11 | 71,900,602 | 71,907,367 | 6,766 |
ENST00000393681.6 | hg19 | chr11 | 71,900,712 | 71,907,342 | 6,631 |
ENST00000675784.1 | hg19 | chr11 | 71,900,959 | 71,907,367 | 6,409 |
ENST00000393679.5 | hg19 | chr11 | 71,901,258 | 71,907,342 | 6,085 |
ENST00000393676.5 | hg19 | chr11 | 71,903,184 | 71,907,343 | 4,160 |
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