Annotation Detail
Information
- Associated Genes
- MTFMT
- Associated Variants
-
MTFMT p.Ser293Asn (p.S293N)
(
ENST00000220058.9 )
MTFMT p.Ser293Asn (p.S293N) ( ENST00000220058.9 ) - Associated Disease
- Combined oxidative phosphorylation defect type 15
- Source Database
- ClinVar
- Description
- NM_139242.4(MTFMT):c.878G>A (p.Ser293Asn) AND Combined oxidative phosphorylation defect type 15
- ClinVar Allele ID
- 137061
- ClinVar RefSeq Alternation Syntax
- NM_139242.4:c.878G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000119836
- ClinVar Disease
- Combined oxidative phosphorylation defect type 15
- Observed Origin Sample
- germline
- Pubmed
- 24461907
Drugs