All variants in the DNM1L gene

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

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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.261dup r.(?) p.(Trp88Metfs*9) - pathogenic g.32858769dup g.32705835dup NM_001278464.1:c.261dup (Trp88Metfs*9) - DNM1L_000008 immunofluorescence studies of the sural nerve revealed absent DNM1L protein PubMed: Yoon 2016, Journal: Yoon 2016, OMIM:var0004 - rs879255686 Germline yes - - 0 - Johan den Dunnen
+/. - c.261dup r.(?) p.(Trp88Metfs*9) - pathogenic g.32858769dup g.32705835dup NM_001278464.1:c.261dup (Trp88Metfs*9) - DNM1L_000008 immunofluorescence studies of the sural nerve revealed absent DNM1L protein PubMed: Yoon 2016, Journal: Yoon 2016, OMIM:var0004 - rs879255686 Germline yes - - 0 - Johan den Dunnen
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