All variants in the ZDHHC9 gene

Information The variants shown are described using the NM_016032.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.892C>T r.(?) p.(Arg298Ter) - pathogenic g.128944967G>A g.129810991G>A - - ZDHHC9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
./. - c.892C>T r.(?) p.(Arg298*) - pathogenic g.128944967G>A g.129810991G>A ZDHHC9 R298* - ZDHHC9_000017 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.892C>T r.(?) p.(Arg298*) - likely pathogenic g.128944967G>A g.129810991G>A - - ZDHHC9_000017 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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