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

48 entries on 1 page. Showing entries 1 - 48.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-2771del r.(?) p.(=)
?/. - c.-2767dup r.(?) p.(=)
-?/. - c.-2694G>A r.(?) p.(=)
+?/. 2 c.65A>G r.(?) p.(Lys22Arg)
?/. - c.79C>T r.(?) p.(Pro27Ser)
-/. - c.92C>T r.(?) p.(Thr31Ile)
-/. - c.92C>T r.(?) p.(Thr31Ile)
+/. 2 c.158A>G 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.488-4A>G r.spl? p.?
+?/. - c.524G>A r.(?) p.(Arg175His)
?/. - c.572G>A r.(?) p.(Gly191Asp)
+/. 5 c.579A>G r.488_606del p.Leu164Profs*4
?/. - c.679C>A r.(?) p.(Pro227Thr)
-?/. - c.832-2A>T r.spl? p.?
?/. - c.832-1G>T r.spl? p.?
-?/. - c.832-1G>T r.spl? p.?
?/. - c.834A>T r.(?) p.(Leu278Phe)
-?/. - c.834A>T r.(?) p.(Leu278Phe)
?/. - c.841A>G r.(?) p.(Ile281Val)
+?/. - c.863C>G 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.1130T>C r.(?) p.(Leu377Pro)
?/. - c.1141G>C r.(?) p.(Gly381Arg)
?/. - c.1144G>A r.(?) p.(Gly382Ser)
?/. 10i c.1286-15T>A r.(spl?) p.(?)
+?/. - c.1439G>A r.(?) p.(Gly480Glu)
+?/. - c.1439G>A r.(?) p.(Gly480Glu)
+/. - c.1448C>T r.(?) p.(Pro483Leu)
+?/. 11 c.1450T>C r.(?) p.(Trp484Arg)
?/. - c.1450T>C r.(?) p.(Trp484Arg)
?/. - c.1544G>T r.(?) p.(Ser515Ile)
-?/. - c.1590A>G r.(?) p.(Glu530=)
?/. - c.1669G>A r.(?) p.(Glu557Lys)
?/. - c.1670A>G r.(?) p.(Glu557Gly)
+?/. 12 c.1675C>T r.(?) p.(Arg559*)
-?/. - c.1812G>A r.(?) p.(Val604=)
+/. 13 c.1813del r.(?) p.(Val605Tyrfs*34)
?/. - c.1842C>A r.(?) p.(Tyr614Ter)
+/. - c.1852T>C r.(?) p.(*618Glnext*13)
-?/. - c.*2150T>C r.(=) p.(=)
Legend