Full data view for gene DNM1L

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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Allele     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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+/. - c.1174G>A r.(?) p.(Glu392Lys) Unknown - pathogenic g.32884003G>A g.32731069G>A - - DNM1L_000011 - PubMed: Chao 2016, Journal: Chao 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - EE 26931468-Pat2 PubMed: Chao 2016, Journal: Chao 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United States - 00y10m - - - 1 Johan den Dunnen
?/. - c.1174G>A r.(?) p.(Glu392Lys) Unknown - NA g.32884003G>A g.32731069G>A - - DNM1L_000011 cDNA expression cloning in Drosiphila rescued Drp1 lethality and over-expression in normal cells did not affect organelle morphology, although it was associated with a subtle mitochondrial trafficking defect in an in vivo assay PubMed: Chao 2016, Journal: Chao 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
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