Annotation Detail
Information
- Associated Genes
- MTFMT
- Associated Variants
-
MTFMT p.Arg332Ter (p.R332*)
(
ENST00000220058.9 )
MTFMT p.Arg332= (p.R332=) ( ENST00000220058.9 )
MTFMT p.Ser209Leu (p.S209L) ( ENST00000220058.9 )
MTFMT p.Arg332Ter (p.R332*) ( ENST00000220058.9 )
MTFMT p.Arg332= (p.R332=) ( ENST00000220058.9 )
MTFMT p.Ser209Leu (p.S209L) ( ENST00000220058.9 ) - Associated Disease
- Leigh syndrome due to mitochondrial complex I deficiency
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs