Transcript #00000143 (NM_024884.2, L2HGDH gene)

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

1 entry on 1 page. Showing entry 1.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
./. - c.1015delA r.(?) p.(Arg339Aspfs*13) pathogenic
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