All variants in the DNM1L gene

Information The variants shown are described using the NM_001278464.1 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.1223C>A r.(?) p.(Ala408Asp) - pathogenic g.32884052C>A g.32731118C>A - - DNM1L_000006 variant not in 400 control chromosomes PubMed: Waterham 2007, Journal: Waterham 2007, OMIM:var0001 - rs121908531 De novo yes - Hpy188I+ 0 - Johan den Dunnen
+/. - c.1223C>A r.(?) p.(Ala408Asp) - NA g.32884052C>A g.32731118C>A - - DNM1L_000006 control fibroblast cDNA overexpression cloning induced aberrant mitochondrial and peroxisomal phenotypes PubMed: Waterham 2007, Journal: Waterham 2007, OMIM:var0001 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.1223C>A r.(?) p.(Ala408Asp) - NA g.32884052C>A g.32731118C>A A395D - DNM1L_000006 mouse embryonic fibroblasts cDNA expression cloning reduces shows reduced oligomerization, mitochondrial fission activity and mitochondrial recruitment of DRP1 (stronger effect compared to R403C) PubMed: Fahrner 2016, Journal: Fahrner 2016 - rs121908531 In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.1223C>A r.(?) p.(Ala408Asp) - NA g.32884052C>A g.32731118C>A - - DNM1L_000006 cDNA expression cloning in Drosiphila failed to rescue Drp1 lethality and over-expression in normal cells showed dominant-negative effect with increased peroxisomal size, altered cellular distribution, decreased total peroxisome numbers per cell, abnormal mitochondrial morphology, abnormal mitochondrial trafficking PubMed: Chao 2016, Journal: Chao 2016 - - In vitro (cloned) - - - 0 - Johan den Dunnen
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