PEX10 peroxisomal biogenesis factor 10
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 156 |
Likely pathogenic | 0 | 120 |
Benign | 0 | 54 |
Likely benign | 0 | 616 |
Conflicting classifications of pathogenicity | 0 | 74 |
Uncertain significance | 0 | 564 |
Ranking
ClinVar | |
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0 |
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0 |
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244 |
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1,190 |
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10 |
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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MGeND data only
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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 | NALD |
SYNONYM | PBD6A |
SYNONYM | PBD6B |
SYNONYM | RNF69 |
MIM | 602859 OMIM |
HGNC | HGNC:8851 HGNC |
Ensembl | ENSG00000157911 Ensembl |
AllianceGenome | HGNC:8851 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000288774.8 | hg38 | chr1 | 2,403,964 | 2,412,564 | 8,601 |
ENST00000507596.5 | hg38 | chr1 | 2,404,838 | 2,412,540 | 7,703 |
ENST00000447513.7 | hg38 | chr1 | 2,403,974 | 2,412,564 | 8,591 |
ENST00000288774.8 | hg19 | chr1 | 2,335,403 | 2,344,003 | 8,601 |
ENST00000447513.7 | hg19 | chr1 | 2,335,413 | 2,344,003 | 8,591 |
ENST00000507596.5 | hg19 | chr1 | 2,336,277 | 2,343,979 | 7,703 |
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