All variants in the ZC4H2 gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. _1_1i c.-56_(53+1_54-1)del r.0? p.0? - pathogenic (recessive) g.(?_64186618)_(64267316_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del r.0? p.0? - pathogenic (recessive) g.(_64166588)_(64361318_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del r.0? p.0? - pathogenic (recessive) g.(?_64192739)_(64528227_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del r.0? p.0? - pathogenic (recessive) g.(?_64170814)_(64414573_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del r.0? p.0? - pathogenic (recessive) g.(?_64170839)_(64414573_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
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