ATP5F1D ATP synthase F1 subunit delta
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 0 | 16 |
Likely benign | 0 | 88 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 124 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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28 |
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200 |
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4 |
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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Target data | : |
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 | ATP5D |
SYNONYM | MC5DN5 |
MIM | 603150 OMIM |
HGNC | HGNC:837 HGNC |
Ensembl | ENSG00000099624 Ensembl |
AllianceGenome | HGNC:837 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000215375.7 | hg38 | chr19 | 1,241,751 | 1,244,825 | 3,075 |
ENST00000591660.5 | hg38 | chr19 | 1,241,820 | 1,244,786 | 2,967 |
ENST00000395633.5 | hg38 | chr19 | 1,241,746 | 1,244,825 | 3,080 |
ENST00000395633.5 | hg19 | chr19 | 1,241,745 | 1,244,824 | 3,080 |
ENST00000215375.7 | hg19 | chr19 | 1,241,750 | 1,244,824 | 3,075 |
ENST00000591660.5 | hg19 | chr19 | 1,241,819 | 1,244,785 | 2,967 |
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