All variants in the DHCR7 gene

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

10 entries on 1 page. Showing entries 1 - 10.
Legend   How to query  

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.724C>T r.(?) p.(Arg242Cys) - - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/. - c.724C>T r.(?) p.(Arg242Cys) - - pathogenic g.71150032G>A g.71438986G>A DHCR7(NM_001360.2):c.724C>T (p.R242C) - DHCR7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
Legend   How to query