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     
+/. - c.243_246del r.(?) p.(Lys81Asnfs*6) - pathogenic (recessive) g.64140116_64140119del g.64920236_64920239del - - ZC4H2_000020 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
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