All variants in the DCDC2 gene

Information The variants shown are described using the NM_016356.3 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     
+/. 2i c.349-2A>G r.349_425del p.Val117Leufs*54 - pathogenic g.24302274T>C g.24302046T>C - - DCDC2_000003 - PubMed: Schueler 2015, Journal: Schueler 2015 - - Germline yes - - 0 - Johan den Dunnen
+/+ 2i c.349-2A>G r.spl? p.? - pathogenic g.24302274T>C g.24302046T>C - - DCDC2_000003 - MORL Deafness Variation Database, PubMed: Schueler 2015, PubMed: Schueler 2015 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
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