All variants in the DCDC2 gene

Information The variants shown are described using the NM_016356.3 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     
+/. 1 c.123_124del r.(?) p.(Ser42Glnfs*72) - pathogenic g.24357857_24357858del g.24357629_24357630del 123_124delGT - DCDC2_000002 - PubMed: Schueler 2015, Journal: Schueler 2015 - - Germline yes - - 0 - Johan den Dunnen
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