Annotation Detail
Information
- Associated Genes
- MTFMT
- Associated Variants
-
MTFMT p.Arg332Ter (p.R332*)
(
ENST00000220058.9 )
MTFMT p.Arg332Ter (p.R332*) ( ENST00000220058.9 ) - Associated Disease
- Combined oxidative phosphorylation defect type 15
- Source Database
- ClinVar
- Description
- NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) AND Combined oxidative phosphorylation defect type 15
- ClinVar Allele ID
- 48429
- ClinVar RefSeq Alternation Syntax
- NM_139242.4:c.994C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-03-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000106390
- ClinVar Disease
- Combined oxidative phosphorylation defect type 15
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Observed Origin Sample
- maternal
- Pubmed
- 23499752
- Pubmed
- 24461907
- Pubmed
- 22499348
Drugs