Transcript #00007266

Transcript name electron-transferring-flavoprotein dehydrogenase
Gene name ETFDH (electron-transferring-flavoprotein dehydrogenase)
Chromosome 4
Transcript - NCBI ID NM_004453.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004444.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

41 entries on 1 page. Showing entries 1 - 41.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-2771del VUS r.(?) p.(=)
?/. - c.-2767dup VUS r.(?) p.(=)
-?/. - c.-2694G>A likely benign r.(?) p.(=)
+?/. 2 c.65A>G - r.(?) p.(Lys22Arg)
?/. - c.79C>T VUS r.(?) p.(Pro27Ser)
-/. - c.92C>T benign r.(?) p.(Thr31Ile)
-/. - c.92C>T benign r.(?) p.(Thr31Ile)
+/. 2 c.158A>G pathogenic r.35_175del p.0
+?/. - c.176-636C>G - r.175_176ins176-635_176-581 p.Gly59Valfs*54
+/. - c.265_266del - r.(?) p.(Gln89Valfs*6)
+?/. 3 c.295C>T - r.(?) p.(Arg99Cys)
?/. - c.381C>T - r.(=) p.(=)
-/. - c.488-47T>C - r.(=) p.(=)
+?/. - c.524G>A likely pathogenic r.(?) p.(Arg175His)
+/. 5 c.579A>G pathogenic r.488_606del p.Leu164Profs*4
?/. - c.679C>A - r.(?) p.(Pro227Thr)
-?/. - c.832-2A>T likely benign r.spl? p.?
?/. - c.832-1G>T VUS r.spl? p.?
-?/. - c.832-1G>T likely benign r.spl? p.?
?/. - c.834A>T VUS r.(?) p.(Leu278Phe)
-?/. - c.834A>T likely benign r.(?) p.(Leu278Phe)
?/. - c.841A>G - r.(?) p.(Ile281Val)
+?/. - c.863C>G ACMG:3 r.(?) p.(Pro288Arg)
+?/. 8 c.920C>G - r.(?) p.(Ser307Cys)
?/. 9 c.973G>T - r.(spl?) p.(Val325Phe?)
?/. - c.1106G>C - r.(?) p.(Gly369Ala)
?/. - c.1117-2A>G - r.spl? p.?
?/. - c.1141G>C - r.(?) p.(Gly381Arg)
?/. - c.1144G>A - r.(?) p.(Gly382Ser)
?/. 10i c.1286-15T>A - r.(spl?) p.(?)
+?/. - c.1439G>A ACMG: 3 r.(?) p.(Gly480Glu)
+?/. - c.1439G>A likely pathogenic r.(?) p.(Gly480Glu)
+?/. 11 c.1450T>C - r.(?) p.(Trp484Arg)
?/. - c.1450T>C - r.(?) p.(Trp484Arg)
?/. - c.1544G>T - r.(?) p.(Ser515Ile)
?/. - c.1669G>A - r.(?) p.(Glu557Lys)
?/. - c.1670A>G - r.(?) p.(Glu557Gly)
+/. 13 c.1813del pathogenic r.(?) p.(Val605Tyrfs*34)
?/. - c.1842C>A VUS r.(?) p.(Tyr614*)
+/. - c.1852T>C - r.(?) p.(*618Glnext*13)
-?/. - c.*2150T>C likely benign r.(=) p.(=)
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