Transcript #00009785

Transcript name transcript variant 4
Gene name IDH3B (isocitrate dehydrogenase 3 (NAD+) beta)
Chromosome 20
Transcript - NCBI ID NM_001258384.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001245313.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

23 entries on 1 page. Showing entries 1 - 23.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.36+6G>A benign r.(=) p.(=)
?/. - c.37-1G>A VUS r.spl? p.?
-?/. - c.82A>G likely benign r.(?) p.(Thr28Ala)
-/. - c.117+6C>A benign r.(=) p.(=)
-?/. - c.117+13C>G likely benign r.(=) p.(=)
-/. - c.118-3G>C benign r.spl? p.?
-/. - c.118-3G>C benign r.spl? p.?
-/. - c.118-3G>C benign r.spl? p.?
-?/. - c.165G>A likely benign r.(?) p.(=)
-/. - c.228C>T benign r.(?) p.(=)
-/. - c.252C>T benign r.(?) p.(=)
-?/. - c.399-6C>T likely benign r.(=) p.(=)
?/. - c.547del VUS r.(?) p.(Ile183Leufs*4)
-?/. - c.636G>A likely benign r.(?) p.(=)
?/. - c.665T>C VUS r.(?) p.(Met222Thr)
?/. - c.880G>A VUS r.(?) p.(Glu294Lys)
?/. - c.1000C>T VUS r.(?) p.(Arg334Trp)
-/. - c.1047G>A benign r.(?) p.(=)
?/. - c.*419C>G VUS r.(=) p.(=)
?/. - c.*425C>G VUS r.(=) p.(=)
-/. - c.*489C>G benign r.(=) p.(=)
?/. - c.*1051C>T VUS r.(=) p.(=)
-?/. - c.*3281G>C likely benign r.(=) p.(=)
Legend