All variants in the ZC4H2 gene

Information The variants shown are described using the NM_018684.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. _1_5_ c.0 r.0 p.0 - pathogenic (recessive) g.(63500000_63666909)_(64493512_64500000)del - del 63,666,909–64,493,512 - ZC4H2_000010 - PubMed: Hirata 2013 - - Unknown - - - 0 - Johan den Dunnen
+/. _1_5_ c.0 r.0 p.0 - pathogenic (recessive) g.(63900000_64049596)_(64370757_64400000)del - del 64,049,596–64,370,757 - ZC4H2_000010 - PubMed: Hirata 2013 - - Unknown - - - 0 - Johan den Dunnen
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