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.199C>T r.(?) p.(Arg67Ter) - pathogenic g.64141723G>A g.64921843G>A - - ZC4H2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.199C>T r.(?) p.(Arg67*) - pathogenic (recessive) g.64141723G>A g.64921843G>A - - ZC4H2_000006 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
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