All variants in the ZC4H2 gene

Information The variants shown are described using the NM_018684.3 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     
+/. 2 c.187G>C r.(?) p.(Val63Leu) - pathogenic (recessive) g.64141735C>G g.64921855C>G ZC4H2 V63L - ZC4H2_000008 - PubMed: Hirata 2013, PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
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