All variants in the UNC13D gene

Information The variants shown are described using the NM_199242.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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.2695C>T r.(?) p.(Arg899Ter) - pathogenic g.73826673G>A g.75830592G>A UNC13D(NM_199242.2):c.2695C>T (p.R899*) - UNC13D_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.2695C>T r.(?) p.(Arg899Ter) - pathogenic g.73826673G>A g.75830592G>A UNC13D(NM_199242.2):c.2695C>T (p.R899*) - UNC13D_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2695C>T r.(?) p.(Arg899Ter) - pathogenic g.73826673G>A g.75830592G>A UNC13D(NM_199242.2):c.2695C>T (p.R899*) - UNC13D_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend   How to query