All variants in the ZDHHC9 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.442C>T r.(?) p.(Arg148Trp) - VUS g.128957700G>A g.129823724G>A - - ZDHHC9_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
+?/. - c.442C>T r.(?) p.(Arg148Trp) - likely pathogenic g.128957700G>A g.129823724G>A - - ZDHHC9_000002 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs137852214 Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.442C>T r.(?) p.(Arg148Trp) - pathogenic (recessive) g.128957700G>A - - - ZDHHC9_000002 - PubMed: Raymond 2007 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.442C>T r.(?) p.(Arg148Trp) - pathogenic (recessive) g.128957700G>A - - - ZDHHC9_000002 - PubMed: Schirwani 2018 - - De novo - - - 0 - Johan den Dunnen
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