PET100 PET100 cytochrome c oxidase chaperone

Information
Symbol
PET100
Type
protein-coding
Description
PET100 cytochrome c oxidase chaperone
Entrez Gene ID
100131801
Genome
hg19
Position
chr19:7,694,679-7,696,842
Genome
hg38
Position
chr19:7,629,793-7,631,956
MIM
614770 OMIM
HGNC
HGNC:40038 HGNC
Ensembl
ENSG00000229833 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 10
Benign 0 18
Likely benign 0 92
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 34
Ranking
ClinVar
0
0
24
136
2
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 :
Filtering :
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 C19orf79
SYNONYM MC4DN12
MIM 614770 OMIM
HGNC HGNC:40038 HGNC
Ensembl ENSG00000229833 Ensembl
AllianceGenome HGNC:40038
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000594797.6 hg38 chr19 7,629,793 7,631,956 2,164
ENST00000698397.1 hg38 chr19 7,629,796 7,631,629 1,834
ENST00000698396.1 hg38 chr19 7,629,788 7,631,605 1,818
ENST00000601406.5 hg38 chr19 7,629,824 7,631,030 1,207
ENST00000456958.7 hg38 chr19 7,629,814 7,631,620 1,807
ENST00000698396.1 hg19 chr19 7,694,674 7,696,491 1,818
ENST00000594797.6 hg19 chr19 7,694,679 7,696,842 2,164
ENST00000698397.1 hg19 chr19 7,694,682 7,696,515 1,834
ENST00000456958.7 hg19 chr19 7,694,700 7,696,506 1,807
ENST00000601406.5 hg19 chr19 7,694,710 7,695,916 1,207
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