Transcript #00011949

Transcript name transcript variant 1
Gene name MECR (mitochondrial trans-2-enoyl-CoA reductase)
Chromosome 1
Transcript - NCBI ID NM_016011.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_057095.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

23 entries on 1 page. Showing entries 1 - 23.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. - c.-39G>C pathogenic (recessive) r.? p.?
-?/. - c.76T>G likely benign r.(?) p.(Cys26Gly)
-?/. - c.219C>T likely benign r.(?) p.(=)
+/. - c.247_250del pathogenic (recessive) r.(?) p.(Asn83Hisfs*4)
+/. - c.247_250del pathogenic (recessive) r.(?) p.(Asn83Hisfs*4)
-?/. - c.275-7C>T likely benign r.(=) p.(=)
?/. - c.596C>T VUS r.(?) p.(Ala199Val)
-?/. - c.680G>A likely benign r.(?) p.(Arg227Lys)
+/. - c.695G>A pathogenic (recessive) r.(?) p.(Gly232Glu)
+/. - c.695G>A pathogenic (recessive) r.(?) p.(Gly232Glu)
+/. - c.695G>A pathogenic (recessive) r.(?) p.(Gly232Glu)
+/. - c.695G>A pathogenic (recessive) r.(?) p.(Gly232Glu)
+/. - c.772C>T pathogenic (recessive) r.(?) p.(Arg258Trp)
+/. - c.772C>T pathogenic (recessive) r.(?) p.(Arg258Trp)
-/. - c.773G>T benign r.(?) p.(Arg258Leu)
-?/. - c.830C>T likely benign r.(?) p.(Ala277Val)
+/. - c.830+2dup pathogenic (recessive) r.spl p.?
+/. - c.830+2dup pathogenic (recessive) r.[830_831ins[guu;830+3_831-1],757_830del] p.[Arg278fs,Asp253fs]
+/. - c.830+2dup pathogenic (recessive) r.spl p.?
+/. - c.830+2dup pathogenic (recessive) r.spl p.?
+/. - c.854A>G pathogenic (recessive) r.(?) p.(Tyr285Cys)
+/. - c.855T>G pathogenic (recessive) r.(?) p.(Tyr285*)
-?/. - c.1114A>G likely benign r.(?) p.(Thr372Ala)
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