Full data view for gene L2HGDH

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

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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Allele     

DNA change (genomic) (hg19)     

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Owner     
./. - c.1015delA r.(?) p.(Arg339Aspfs*13) pathogenic Both (homozygous) g.50734520delT - L2HGDH_000001 DNA SEQ-NG L2HGA - M Iran yes - 1 Variome.ir
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