All variants in the DNM1L gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.385_386del r.(?) p.(Glu129Lysfs*6) - pathogenic g.32861135_32861136del g.32708201_32708202del 346_347delGA - DNM1L_000003 mRNA expression strongly reduced PubMed: Nasca 2016, Journal: Nasca 2016, OMIM:var0005 - rs879255687 Germline yes - - 0 - Daniele Ghezzi
+/. - c.385_386del r.(?) p.(Glu129Lysfs*6) - pathogenic g.32861135_32861136del g.32708201_32708202del NM_001278464.1:c.385_386del (Glu129Lys*6) - DNM1L_000003 - PubMed: Yoon 2016, Journal: Yoon 2016, OMIM:var0005 - rs879255687 Germline yes - - 0 - Johan den Dunnen
+/. - c.385_386del r.(?) p.(Glu129Lysfs*6) - pathogenic g.32861135_32861136del g.32708201_32708202del NM_001278464.1:c.385_386del (Glu129Lys*6) - DNM1L_000003 - PubMed: Yoon 2016, Journal: Yoon 2016, OMIM:var0005 - rs879255687 Germline yes - - 0 - Johan den Dunnen
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