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     
+/. 5 c.649A>T r.(?) p.(Lys217*) - pathogenic g.24291215T>A g.24290987T>A - - DCDC2_000001 homozygosity mapping, exome sequencing PubMed: Schueler 2015, Journal: Schueler 2015 - - Germline yes - - 0 - Johan den Dunnen
+/+ 5 c.649A>T r.(?) p.(Lys217*) - pathogenic g.24291215T>A g.24290987T>A - - DCDC2_000001 - MORL Deafness Variation Database, PubMed: Schueler 2015 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
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