ATP5MC3 ATP synthase membrane subunit c locus 3

Information
Symbol
ATP5MC3
Type
protein-coding
Description
ATP synthase membrane subunit c locus 3
Entrez Gene ID
518
Genome
hg19
Position
chr2:176,040,986-176,046,438
Genome
hg38
Position
chr2:175,176,258-175,181,710
MIM
602736 OMIM
HGNC
HGNC:843 HGNC
Ensembl
ENSG00000154518 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 2
Benign 0 6
Likely benign 0 6
Uncertain significance 0 16
Ranking
ClinVar
0
0
2
26
6
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 :
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 ATP5G3
SYNONYM DYTSPG
SYNONYM P3
MIM 602736 OMIM
HGNC HGNC:843 HGNC
Ensembl ENSG00000154518 Ensembl
AllianceGenome HGNC:843
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392541.3 hg38 chr2 175,178,145 175,181,663 3,519
ENST00000409194.5 hg38 chr2 175,178,067 175,181,710 3,644
ENST00000284727.9 hg38 chr2 175,176,258 175,181,710 5,453
ENST00000284727.9 hg19 chr2 176,040,986 176,046,438 5,453
ENST00000409194.5 hg19 chr2 176,042,795 176,046,438 3,644
ENST00000392541.3 hg19 chr2 176,042,873 176,046,391 3,519
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