ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2

Information
Symbol
ATPAF2
Type
protein-coding
Description
ATP synthase mitochondrial F1 complex assembly factor 2
Entrez Gene ID
91647
Genome
hg19
Position
chr17:17,921,335-17,942,482
Genome
hg38
Position
chr17:18,018,021-18,039,168
MIM
608918 OMIM
HGNC
HGNC:18802 HGNC
Ensembl
ENSG00000171953 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 42
Likely benign 0 114
Conflicting classifications of pathogenicity 0 20
not provided 2 0
Uncertain significance 0 174
Ranking
ClinVar
0
0
60
260
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 ATP12
SYNONYM ATP12p
SYNONYM LP3663
SYNONYM MC5DN1
MIM 608918 OMIM
HGNC HGNC:18802 HGNC
Ensembl ENSG00000171953 Ensembl
AllianceGenome HGNC:18802
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000474627.8 hg38 chr17 18,018,021 18,039,168 21,148
ENST00000585101.5 hg38 chr17 18,016,207 18,039,168 22,962
ENST00000585101.5 hg19 chr17 17,919,521 17,942,482 22,962
ENST00000474627.8 hg19 chr17 17,921,335 17,942,482 21,148
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