Term ID: | 9637 |
Name: | inborn mitochondrial myopathy |
Definition: | Myopathy caused by mitochondrial abnormalities. |
Alternative IDs: | 251900 |
ParentIDs: | |
TreeNumbers: | |
Synonyms: | mitochondrial cytopathy; mitochondrial myopathy |
Slim Mappings: | |
Reference: |
MedGen:
MeSH:
OMIM: 251900; MSeqDR : 00400; Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001397406.1(FDX2):c.159T>G (p.Ala53=) | 112812 | FDX2 | Benign | 378395 | RCV000423979|RCV001523339|RCV001702465; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020714,MedGen:C5193223,OMIM:251900 | 19 | 10426422 | 10426422 | | | 19:g.10426422A>C | ClinGen:CA9191309 | CN169374 not specified; | | NM_001397406.1(FDX2):c.45A>G (p.Leu15=) | 112812 | FDX2 | Benign | 395782 | RCV000440346|RCV001523340|RCV001702444; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020714,MedGen:C5193223,OMIM:251900 | 19 | 10426628 | 10426628 | | | 19:g.10426628T>C | ClinGen:CA9191365 | CN169374 not specified; | |
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MSeqDR Portal | Ensembl Gene ID | Associated Gene Name | LSDB Genes | LSDB Variants | clinVar hits | Description | Disease id | ENSG00000210127 | MT-TA | 1 | 1 | 0 | mitochondrially encoded tRNA alanine [Source:HGNC Symbol;Acc:7475] | 00400 | ENSG00000210191 | MT-TL2 | 1 | 1 | 0 | mitochondrially encoded tRNA leucine 2 (CUN) [Source:HGNC Symbol;Acc:7491] | 00400 | ENSG00000210112 | MT-TM | 1 | 1 | 0 | mitochondrially encoded tRNA methionine [Source:HGNC Symbol;Acc:7492] | 00400 | ENSG00000210117 | MT-TW | 1 | 1 | 0 | mitochondrially encoded tRNA tryptophan [Source:HGNC Symbol;Acc:7501] | 00400 |
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