Transcript #00006068

Transcript name D-2-hydroxyglutarate dehydrogenase
Gene name D2HGDH (D-2-hydroxyglutarate dehydrogenase)
Chromosome 2
Transcript - NCBI ID NM_152783.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_689996.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

77 entries on 1 page. Showing entries 1 - 77.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. _1i_6_ c.(?_-92-1)_(853+1_854-1)del pathogenic r.0? p.0?
+/. 2i c.293-23A>G pathogenic r.spl ?
-/. - c.293-18A>G benign r.(=) p.(=)
+/. 3 c.325_326dup pathogenic r.(?) p.(Glu110Argfs*18)
+/. 3 c.325_326dup pathogenic r.(?) p.(Glu110Argfs*18)
+/. 3 c.325_326dup pathogenic r.(?) p.(Glu110Argfs*18)
+/. 3 c.326C>G pathogenic r.(?) p.(Ser109Trp)
+/. 3 c.326C>G pathogenic r.(?) p.(Ser109Trp)
+/. 3 c.326C>G pathogenic r.(?) p.(Ser109Trp)
?/? 4 c.373G>A VUS r.(?) p.(Ala125Thr)
+/. 4 c.381C>A pathogenic r.(?) p.(Asn127Lys)
+/. 4 c.392G>T pathogenic r.(?) p.(Gly131Val)
+/. 4 c.392G>T pathogenic r.(?) p.(Gly131Val)
-?/. - c.423C>T likely benign r.(=) p.(=)
+/. 4 c.440T>G pathogenic r.(?) p.(Ile147Ser)
+/. 4 c.457A>G pathogenic r.(?) p.(Met153Val)
+/. 4 c.457A>G pathogenic r.(?) p.(Met153Val)
+/. 4 c.458T>C pathogenic r.(?) p.(Met153Thr)
+/. 5 c.505C>T pathogenic r.(?) p.(Gln169*)
+/. 5 c.515G>A pathogenic r.(?) p.(Cys172Tyr)
+/. 5 c.515G>A pathogenic r.(?) p.(Cys172Tyr)
+/. 5 c.515G>A pathogenic r.(?) p.(Cys172Tyr)
+/. 5 c.515G>A pathogenic r.(?) p.(Cys172Tyr)
-?/. - c.551G>A likely benign r.(?) p.(Arg184Gln)
+/. 5 c.566C>T pathogenic r.(?) p.(Pro189Leu)
+/. 5 c.566C>T pathogenic r.(?) p.(Pro189Leu)
+/. 5 c.614C>T pathogenic r.(?) p.(Ala205Val)
+/. 5 c.642del pathogenic r.(?) p.(Arg215Aspfs*25)
+/. 5 c.642del pathogenic r.(?) p.(Arg215Aspfs*25)
-/. - c.685-9T>C benign r.(=) p.(=)
+/. 5i c.685-2A>G pathogenic r.spl p.?
+/. 5i c.685-2A>G pathogenic r.spl p.?
+/. 5i c.685-2A>G pathogenic r.spl p.?
+/. 5i c.685-2A>G pathogenic r.spl p.?
+/. 5i c.685-2A>G pathogenic r.spl p.?
+/. 6 c.692C>T pathogenic r.(?) p.(Ala231Val)
+/. 6 c.692C>T pathogenic r.(?) p.(Ala231Val)
+/. 6 c.692C>T pathogenic r.(?) p.(Ala231Val)
+/. 6 c.697G>A pathogenic r.(?) p.(Gly233Ser)
+/. 6 c.697G>A pathogenic r.(?) p.(Gly233Ser)
+/. 6 c.697G>A pathogenic r.(?) p.(Gly233Ser)
+/. 6i c.853+2T>C pathogenic r.spl p.?
+/. 6i c.853+2T>C pathogenic r.spl p.?
-/. - c.854-1200C>T benign r.(=) p.(=)
?/? 7 c.858C>A VUS r.(?) p.(Cys286*)
-?/. - c.1063G>A likely benign r.(?) p.(Gly355Ser)
+/. 8 c.1123G>T pathogenic r.(?) p.(Asp375Tyr)
+/. 8 c.1123G>T pathogenic r.(?) p.(Asp375Tyr)
+/. 8 c.1123G>T pathogenic r.(?) p.(Asp375Tyr)
+/. 8i_10_ c.(1140+1_1141-1)_(*1_?)del pathogenic r.? p.(0)
-?/. - c.1183C>T likely benign r.(?) p.(Arg395Trp)
+/. 9 c.1195G>A pathogenic r.(?) p.(Val399Met)
+/. 9 c.1195G>A pathogenic r.(?) p.(Val399Met)
+/. 9 c.1200C>A pathogenic r.(?) p.(Tyr400*)
+/. 9 c.1200C>A pathogenic r.(?) p.(Tyr400*)
+/. 9 c.1256G>A pathogenic r.(?) p.(Arg419His)
+/. 9 c.1256G>A pathogenic r.(?) p.(Arg419His)
+/. 9 c.1256G>A pathogenic r.(?) p.(Arg419His)
+/. 9 c.1276G>A pathogenic r.(?) p.(Ala426Thr)
+/. 9 c.1276G>A pathogenic r.(?) p.(Ala426Thr)
+/. 9 c.1276G>A pathogenic r.(?) p.(Ala426Thr)
+/. 9 c.1276G>A pathogenic r.(?) p.(Ala426Thr)
+/. 10 c.1315A>G pathogenic r.(?) p.(Asn439Asp)
+/. 10 c.1315A>G pathogenic r.(?) p.(Asn439Asp)
+/. 10 c.1315A>G pathogenic r.(?) p.(Asn439Asp)
+/. 10 c.1315A>G pathogenic r.(?) p.(Asn439Asp)
+/. 10 c.1331T>C pathogenic r.(?) p.(Val444Ala)
+/. 10 c.1331T>C pathogenic r.(?) p.(Val444Ala)
+/. 10 c.1331T>C pathogenic r.(?) p.(Val444Ala)
+/. 10 c.1333_1334del pathogenic r.(?) p.(Thr445Glyfs*103)
+/. 10 c.1333_1334del pathogenic r.(?) p.(Thr445Glyfs*103)
+/. 10 c.1333_1334del pathogenic r.(?) p.(Thr445Glyfs*103)
+/. 10 c.1337C>T pathogenic r.(?) p.(Ala446Val)
+/. 10 c.1429G>A pathogenic r.(?) p.(Gly477Arg)
+/. 10 c.1429G>A pathogenic r.(?) p.(Gly477Arg)
+/. 10 c.1429G>A pathogenic r.(?) p.(Gly477Arg)
+?/. - c.1531del likely pathogenic r.(?) p.(Leu511Serfs*169)
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