All variants in the DHCR7 gene

Information The variants shown are described using the NM_001360.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     
+/+ 7 c.730G>A r.(?) p.(Gly244Arg) - - pathogenic g.71150026C>T g.71438980C>T - - DHCR7_000165 - PubMed: Waterham et al. 1998 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.730G>A r.(?) p.(Gly244Arg) - - pathogenic g.71150026C>T g.71438980C>T - - DHCR7_000165 - PubMed: Waterham et al. 1998 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.730G>A r.(?) p.(Gly244Arg) - - pathogenic g.71150026C>T g.71438980C>T - - DHCR7_000165 - PubMed: Waterham et al. 1998 - - Unknown - - - 0 - István Balogh
+/+ 7 c.730G>A r.(?) p.(Gly244Arg) - - pathogenic g.71150026C>T g.71438980C>T - - DHCR7_000165 - PubMed: Waterham et al. 1998 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/. - c.730G>A r.(?) p.(Gly244Arg) - - pathogenic g.71150026C>T g.71438980C>T - - DHCR7_000165 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121909764 Germline - 1/2794 individuals - 0 - Mohammed Faruq
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