Full data view for gene DHCR7

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - Paternal (confirmed) - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - Paternal (confirmed) - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - DNA SEQ - - SLOS - - - ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - Paternal (confirmed) - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - Unknown - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Waye 2005 Patient 7 from table 1 Waye et al. 2005 ? ? United States;Canada white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - Unknown - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Waye 2005 Patient 9 from table 1 Waye et al. 2005 ? ? United States;Canada white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - Unknown - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Goodwin 2008 Patient 1 from Goodwin et al. (2008) ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - Unknown - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 14 from Pappu et al. (2006) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - Maternal (confirmed) - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - DNA SEQ - - SLOS - - - ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.724C>T r.(?) p.(Arg242Cys) - Parent #2 - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 8 from Krakowiak et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.724C>T r.(?) p.(Arg242Cys) - Unknown - 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 - - - - - - - - - - - - - - - - - - -
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