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     
+?/. - c.598G>A r.(?) p.(Ala200Thr) - likely pathogenic g.64137740C>T g.64917860C>T - - ZC4H2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.598G>A r.(?) p.(Ala200Thr) - pathogenic (recessive) g.64137740C>T g.64917860C>T - - ZC4H2_000002 - Frints 2019, submitted - - Germline - - - 0 - Vera Kalscheuer
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