All variants in the ZC4H2 gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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.637C>T r.(?) p.(Arg213Trp) - VUS g.64137701G>A g.64917821G>A R213W - ZC4H2_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
+/. 5 c.637C>T r.(?) p.(Arg213Trp) - pathogenic g.64137701G>A g.64917821G>A ZC4H2 R190W - ZC4H2_000007 - PubMed: Hirata 2013, PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.637C>T r.(?) p.(Arg213Trp) - pathogenic (recessive) g.64137701G>A g.64917821G>A - - ZC4H2_000007 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. 5 c.637C>T r.(?) p.(Arg213Trp) - pathogenic (recessive) g.64137701G>A g.64917821G>A - - ZC4H2_000007 - PubMed: Hirata 2013 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.637C>T r.(?) p.(Arg213Trp) - pathogenic (recessive) g.64137701G>A g.64917821G>A - - ZC4H2_000007 - PubMed: Hirata 2013 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.637C>T r.(?) p.(Arg213Trp) - pathogenic (recessive) g.64137701G>A g.64917821G>A - - ZC4H2_000007 - PubMed: Hirata 2013 - - Germline - - - 0 - Johan den Dunnen
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