All variants in the DNM1L gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.1087G>A r.(?) p.(Gly363Arg) - pathogenic g.32875536G>A g.32722602G>A - - DNM1L_000010 maternal mosaicism (0.06-0.08) PubMed: Chao 2016, Journal: Chao 2016, OMIM:var0008 - rs879255689 De novo - - - 0 - Johan den Dunnen
+/. - c.1087G>A r.(?) p.(Gly363Arg) - NA g.32875536G>A g.32722602G>A - - DNM1L_000010 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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