FXN frataxin

Information
Symbol
FXN
Type
protein-coding
Description
frataxin
Entrez Gene ID
2395
Genome
hg19
Position
chr9:71,650,668-71,693,992
Genome
hg38
Position
chr9:69,035,752-69,079,076
MIM
606829 OMIM
HGNC
HGNC:3951 HGNC
Ensembl
ENSG00000165060 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 14
Benign 0 42
Likely benign 0 28
Conflicting classifications of pathogenicity 0 14
not provided 1 0
Uncertain significance 0 72
Ranking
ClinVar
0
0
22
140
12
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CyaY
SYNONYM FA
SYNONYM FARR
SYNONYM FRDA
SYNONYM X25
MIM 606829 OMIM
HGNC HGNC:3951 HGNC
Ensembl ENSG00000165060 Ensembl
AllianceGenome HGNC:3951
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000377270.8 hg38 chr9 69,036,033 69,074,881 38,849
ENST00000484259.3 hg38 chr9 69,035,752 69,079,076 43,325
ENST00000498653.5 hg38 chr9 69,036,161 69,073,105 36,945
ENST00000396366.6 hg38 chr9 69,035,762 69,073,022 37,261
ENST00000484259.3 hg19 chr9 71,650,668 71,693,992 43,325
ENST00000396366.6 hg19 chr9 71,650,678 71,687,938 37,261
ENST00000377270.8 hg19 chr9 71,650,949 71,689,797 38,849
ENST00000498653.5 hg19 chr9 71,651,077 71,688,021 36,945
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