Annotation Detail
Information
- Associated Genes
- MTFMT
- Associated Variants
-
MTFMT p.Arg128Ter (p.R128*)
(
ENST00000220058.9 )
MTFMT p.Arg128Ter (p.R128*) ( ENST00000220058.9 ) - Associated Disease
- Mitochondrial complex 1 deficiency, nuclear type 27 Combined oxidative phosphorylation defect type 15
- Source Database
- ClinVar
- Description
- NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) AND multiple conditions
- ClinVar Allele ID
- 48427
- ClinVar RefSeq Alternation Syntax
- NM_139242.4:c.382C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-01-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002482939
- ClinVar Disease
- Combined oxidative phosphorylation defect type 15
- ClinVar Disease
- Mitochondrial complex 1 deficiency, nuclear type 27
- Observed Origin Sample
- unknown
Drugs