All variants in the ZDHHC9 gene

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

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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     
+/. _6_ c.(487+1_488-125)_(675-171_675-1)del r.? p.? - pathogenic (recessive) g.(128946797_128946967)_(128948896_128957654)del - chrX: 128946967–128948896del - ZDHHC9_000036 - PubMed: Schirwani 2018, Balasubramanian 2020 in OMIM:var0006 - - Germline yes - - 0 - Johan den Dunnen
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