Transcript #00013110

Transcript name L-2-hydroxyglutarate dehydrogenase
Gene name L2HGDH (L-2-hydroxyglutarate dehydrogenase)
Chromosome 14
Transcript - NCBI ID NM_024884.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_079160.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

47 entries on 1 page. Showing entries 1 - 47.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-29G>T r.(=) p.(=)
./. - c.53T>G r.(?) p.(Leu18Arg)
./. - c.99G>T r.(?) p.(Arg33Ser)
./. - c.121A>G r.(?) p.(Ser41Gly)
./. - c.137C>T r.(?) p.(Thr46Ile)
./. - c.140+460_140+461insA r.(=) p.(=)
./. - c.140+607C>T r.(=) p.(=)
./. - c.141-133C>T r.(=) p.(=)
./. - c.141-124G>A r.(=) p.(=)
./. - c.159C>T r.(=) p.(=)
./. - c.256+30G>C r.(=) p.(=)
./. - c.408+14T>C r.(=) p.(=)
./. - c.408+36A>G r.(=) p.(=)
./. - c.408+2276C>T r.(=) p.(=)
./. - c.540+10_540+14del r.(=) p.(=)
./. - c.540+766C>A r.(=) p.(=)
./. - c.540+775A>T r.(=) p.(=)
./. - c.540+803G>A r.(=) p.(=)
./. - c.540+804G>T r.(=) p.(=)
./. - c.540+827A>G r.(=) p.(=)
./. - c.540+906A>G r.(=) p.(=)
./. - c.540+966A>G r.(=) p.(=)
./. - c.541-28C>T r.(=) p.(=)
./. - c.582C>G r.(?) p.(Asp194Glu)
./. - c.703+12T>C r.(=) p.(=)
./. - c.703+1318C>T r.(=) p.(=)
./. - c.703+1516G>A r.(=) p.(=)
./. - c.738+15G>A r.(=) p.(=)
./. - c.738+114_738+115insAAGTAA r.(=) p.(=)
./. - c.738+223A>G r.(=) p.(=)
./. - c.739-73A>G r.(=) p.(=)
./. - c.816C>T r.(=) p.(=)
./. - c.840A>G r.(=) p.(=)
./. - c.906+22T>G r.(=) p.(=)
./. - c.906+34_906+35insT r.(=) p.(=)
./. - c.1064+5C>T r.spl? p.?
./. - c.1130T>C r.(?) p.(Phe377Ser)
./. - c.1196+34C>T r.(=) p.(=)
./. - c.1196+42A>G r.(=) p.(=)
./. - c.1196+138A>C r.(=) p.(=)
./. - c.1196+181G>T r.(=) p.(=)
./. - c.*9322A>G r.(=) p.(=)
./. - c.*9341C>T r.(=) p.(=)
./. - c.*9376A>G r.(=) p.(=)
./. - c.*9395_*9397del r.(=) p.(=)
./. - c.*9445G>A r.(=) p.(=)
./. - c.*9481_*9482del r.(=) p.(=)
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