ATP5F1D ATP synthase F1 subunit delta

Information
Symbol
ATP5F1D
Type
protein-coding
Description
ATP synthase F1 subunit delta
Entrez Gene ID
513
Genome
hg19
Position
chr19:1,241,750-1,244,824
Genome
hg38
Position
chr19:1,241,751-1,244,825
MIM
603150 OMIM
HGNC
HGNC:837 HGNC
Ensembl
ENSG00000099624 Ensembl
Links
NCBI Gene Cards OncoKB
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
0
0
28
200
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
Search Word
Target data :
MGeND data only
Category :
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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 ATP5D
SYNONYM MC5DN5
MIM 603150 OMIM
HGNC HGNC:837 HGNC
Ensembl ENSG00000099624 Ensembl
AllianceGenome HGNC:837
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
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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