Unique variants in the L2HGDH gene

Information The variants shown are described using the NM_024884.2 transcript reference sequence.

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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
./. 1 - c.1015delA r.(?) p.(Arg339Aspfs*13) pathogenic g.50734520delT - L2HGDH_000001 Variome.ir
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