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     
+?/? 4 c.286C>T r.(?) p.(Arg96Trp) - likely pathogenic (recessive) g.128962999G>A g.129829023G>A - - ZDHHC9_000004 - PubMed: Tzschach 2015 - - Germline - - - 0 - Andreas Tzschach
+/. 4 c.286C>T r.(?) p.(Arg96Trp) - pathogenic g.128962999G>A g.129829023G>A - - ZDHHC9_000004 - PubMed: Han 2018 - - De novo - - - 0 - Joonhong Park
+/. - c.286C>T r.(?) p.(Arg96Trp) - pathogenic (dominant) g.128962999G>A - - - ZDHHC9_000004 variant not in 622 Korean individuals PubMed: Han 2017 - - De novo - - - 0 - Johan den Dunnen
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