FGF23 fibroblast growth factor 23
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 16 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 46 |
Likely benign | 0 | 86 |
Conflicting classifications of pathogenicity | 0 | 24 |
Uncertain significance | 0 | 218 |
Ranking
ClinVar | |
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0 |
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0 |
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60 |
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292 |
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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
[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 |
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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 | ADHR |
SYNONYM | FGFN |
SYNONYM | HFTC2 |
SYNONYM | HPDR2 |
SYNONYM | HYPF |
SYNONYM | PHPTC |
MIM | 605380 OMIM |
HGNC | HGNC:3680 HGNC |
Ensembl | ENSG00000118972 Ensembl |
AllianceGenome | HGNC:3680 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000237837.2 | hg38 | chr12 | 4,368,227 | 4,379,712 | 11,486 |
ENST00000237837.2 | hg19 | chr12 | 4,477,393 | 4,488,878 | 11,486 |
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