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 | |
---|---|
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0 |
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0 |
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24 |
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136 |
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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
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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 |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
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 |
---|---|
SYNONYM | C19orf79 |
SYNONYM | MC4DN12 |
MIM | 614770 OMIM |
HGNC | HGNC:40038 HGNC |
Ensembl | ENSG00000229833 Ensembl |
AllianceGenome | HGNC:40038 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
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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