Annotation Detail
Information
- Associated Genes
- MTFMT
- Associated Variants
-
MTFMT p.Ser209Leu (p.S209L)
(
ENST00000220058.9 )
MTFMT p.Ser209Leu (p.S209L) ( ENST00000220058.9 ) - Associated Disease
- Mitochondrial complex 1 deficiency, nuclear type 27
- Source Database
- ClinVar
- Description
- NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) AND Mitochondrial complex 1 deficiency, nuclear type 27
- ClinVar Allele ID
- 48426
- ClinVar RefSeq Alternation Syntax
- NM_139242.4:c.626C>T
- 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/RCV000735417
- ClinVar Disease
- Mitochondrial complex 1 deficiency, nuclear type 27
- Observed Origin Sample
- germline
- Pubmed
- 24461907
- Pubmed
- 21907147
- Pubmed
- 22499348
Drugs