Transcript #00025306

Transcript name NADH dehydrogenase (ubiquinone) complex I, assembly factor 5, transcript variant 1
Gene name NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5)
Chromosome 20
Transcript - NCBI ID NM_024120.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_077025.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

14 entries on 1 page. Showing entries 1 - 14.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 1 c.155A>C pathogenic (recessive) r.(?) p.(Lys52Thr)
-?/. - c.216G>A likely benign r.(?) p.(=)
-?/. - c.216G>A likely benign r.(?) p.(=)
-/. - c.222+8_222+15del benign r.(=) p.(=)
?/. 1i c.222+18_222+33dup VUS r.(?) p.(?)
+?/. 1i c.223-907A>C likely pathogenic (recessive) r.spl p.?
+/. 3 c.327G>C pathogenic (recessive) r.spl p.?
-?/. - c.375+16A>G likely benign r.(=) p.(=)
?/. - c.520-1G>C VUS r.spl? p.?
?/. - c.611C>T VUS r.(?) p.(Ala204Val)
?/. - c.752T>C VUS r.(?) p.(Met251Thr)
+/. - c.775C>T pathogenic r.(?) p.(Gln259*)
+/. 9 c.836T>G pathogenic (recessive) r.(?) p.(Met279Arg)
+/. 9 c.836T>G pathogenic (recessive) r.(?) p.(Met279Arg)
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