All variants in the DNM1L gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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.1246C>T r.(?) p.(Arg416Cys) - pathogenic g.32884296C>T g.32731362C>T - - DNM1L_000009 - PubMed: Fahrner 2016, Journal: Fahrner 2016, OMIM:var0006 - rs863223953 De novo - - - 0 - Johan den Dunnen
+/. - c.1246C>T r.(?) p.(Arg416Cys) - NA g.32884296C>T g.32731362C>T - - DNM1L_000009 mouse embryonic fibroblasts cDNA expression dear8LOVcloning reduces shows reduced oligomerization, mitochondrial fission activity and mitochondrial recruitment of DRP1 (to lesser extent as A395D) PubMed: Fahrner 2016, Journal: Fahrner 2016, OMIM:var0006 - rs863223953 In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.1246C>T r.(?) p.(Arg416Cys) - pathogenic g.32884296C>T g.32731362C>T - - DNM1L_000009 - PubMed: Fahrner 2016, Journal: Fahrner 2016, OMIM:var0006 - rs863223953 De novo - - - 0 - Johan den Dunnen
+?/. - c.1246C>T r.(?) p.(Arg416Cys) - likely pathogenic g.32884296C>T g.32731362C>T DNM1L(NM_001278464.1):c.1246C>T (p.R416C) - DNM1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.1246C>T r.(?) p.(Arg416Cys) - pathogenic g.32884296C>T g.32731362C>T DNM1L(NM_001278464.1):c.1246C>T (p.R416C) - DNM1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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