FDX2 ferredoxin 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 4 |
Benign | 0 | 44 |
Likely benign | 0 | 128 |
Conflicting classifications of pathogenicity | 0 | 6 |
Uncertain significance | 0 | 78 |
Ranking
ClinVar | |
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0 |
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0 |
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32 |
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220 |
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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
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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 |
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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 | FDX1L |
SYNONYM | MEOAL |
MIM | 614585 OMIM |
HGNC | HGNC:30546 HGNC |
Ensembl | ENSG00000267673 Ensembl |
AllianceGenome | HGNC:30546 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000492239.5 | hg38 | chr19 | 10,310,217 | 10,315,795 | 5,579 |
ENST00000706663.1 | hg38 | chr19 | 10,309,916 | 10,316,015 | 6,100 |
ENST00000393708.3 | hg38 | chr19 | 10,310,045 | 10,316,015 | 5,971 |
ENST00000494368.5 | hg38 | chr19 | 10,310,355 | 10,316,015 | 5,661 |
ENST00000706663.1 | hg19 | chr19 | 10,420,592 | 10,426,691 | 6,100 |
ENST00000393708.3 | hg19 | chr19 | 10,420,721 | 10,426,691 | 5,971 |
ENST00000492239.5 | hg19 | chr19 | 10,420,893 | 10,426,471 | 5,579 |
ENST00000494368.5 | hg19 | chr19 | 10,421,031 | 10,426,691 | 5,661 |
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