Transcript #00009783

Transcript name isocitrate dehydrogenase 2 (NADP+), mitochondrial
Gene name IDH2 (isocitrate dehydrogenase 2 (NADP+), mitochondrial)
Chromosome 15
Transcript - NCBI ID NM_002168.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002159.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

10 entries on 1 page. Showing entries 1 - 10.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/. 3 c.265C>T likely pathogenic, ACMG: 4 r.(?) p.(Arg89Cys)
-?/. - c.327G>A likely benign r.(?) p.(=)
?/. - c.407A>C VUS r.(?) p.(Asn136Thr)
-?/. - c.563G>A likely benign r.(?) p.(Arg188Gln)
-?/. - c.730T>C likely benign r.(?) p.(Trp244Arg)
-?/. - c.810T>G likely benign r.(?) p.(Phe270Leu)
-?/. - c.1050C>T likely benign r.(?) p.(=)
-?/. - c.1178+8T>C likely benign r.(=) p.(=)
-?/. - c.1304C>T likely benign r.(?) p.(Thr435Met)
-?/. - c.1304C>T likely benign r.(?) p.(Thr435Met)
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