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.1123G>A r.(?) p.(Gly375Ser) - pathogenic g.32883952G>A g.32731018G>A - - DNM1L_000007 - PubMed: Sheffer 2016, Journal: Sheffer 2016, OMIM:var0003 - rs886037861 De novo - - - 0 - Johan den Dunnen
+/. - c.1123G>A r.(?) p.(Gly375Ser) - NA g.32883952G>A g.32731018G>A - - DNM1L_000007 control fibroblast cDNA overexpression cloning induced signi´Čücantly altered mitochondrial morphology PubMed: Sheffer 2016, Journal: Sheffer 2016, OMIM:var0003 - rs886037861 In vitro (cloned) - - - 0 - Johan den Dunnen
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