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.1124G>A r.(?) p.(Gly375Asp) - pathogenic g.32883953G>A g.32731019G>A - - DNM1L_000001 changes conserved residue in middle (oligomerization) domain of protein PubMed: Vanstone 2016, Journal: Vanstone 2016, OMIM:var0002 - rs879255685 De novo - - - 0 - Matthew Lines
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