Annotation Detail
Information
- Associated Genes
- MTFMT
- Associated Variants
-
MTFMT p.Arg49LeufsTer58 (p.R49Lfs*58)
(
ENST00000220058.9 )
MTFMT p.Arg49LeufsTer58 (p.R49Lfs*58) ( ENST00000220058.9 )
MTFMT p.Arg332Ter (p.R332*) ( ENST00000220058.9 )
MTFMT p.Arg332= (p.R332=) ( ENST00000220058.9 )
MTFMT p.Ser293Asn (p.S293N) ( ENST00000220058.9 )
MTFMT p.Ser209Leu (p.S209L) ( ENST00000220058.9 )
MTFMT p.Pro151Leu (p.P151L) ( ENST00000220058.9 )
MTFMT p.Arg128Ter (p.R128*) ( ENST00000220058.9 )
MTFMT p.Ser125Leu (p.S125L) ( ENST00000220058.9 )
MTFMT p.Gln25Ter (p.Q25*) ( ENST00000220058.9 )
MTFMT p.Arg332Ter (p.R332*) ( ENST00000220058.9 )
MTFMT p.Arg332= (p.R332=) ( ENST00000220058.9 )
MTFMT p.Ser293Asn (p.S293N) ( ENST00000220058.9 )
MTFMT p.Ser209Leu (p.S209L) ( ENST00000220058.9 )
MTFMT p.Pro151Leu (p.P151L) ( ENST00000220058.9 )
MTFMT p.Arg128Ter (p.R128*) ( ENST00000220058.9 )
MTFMT p.Ser125Leu (p.S125L) ( ENST00000220058.9 )
MTFMT p.Gln25Ter (p.Q25*) ( ENST00000220058.9 ) - Associated Disease
- combined oxidative phosphorylation deficiency 15
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs