Full data view for gene DHCR7

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

11 entries on 1 page. Showing entries 1 - 11.
Legend   How to query  

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     
+/+ 6 c.470T>C r.(?) p.(Leu157Pro) - Paternal (confirmed) - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.470T>C r.(?) p.(Leu157Pro) - Paternal (confirmed) - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.470T>C r.(?) p.(Leu157Pro) - Paternal (inferred) - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.470T>C r.(?) p.(Leu157Pro) - Paternal (confirmed) - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - ? ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.470T>C r.(?) p.(Leu157Pro) - Paternal (inferred) - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? - white 00y03m - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.470T>C r.(?) p.(Leu157Pro) A Maternal (confirmed) - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.470T>C r.(?) p.(Leu157Pro) - Maternal (inferred) - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.470T>C r.(?) p.(Leu157Pro) - Maternal (inferred) - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? - white 00y03m - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.470T>C r.(?) p.(Leu157Pro) - Maternal (confirmed) - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - ? ? Lithuania white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.470T>C r.(?) p.(Leu157Pro) - Parent #2 - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Kozák 2000 - F ? Czech Republic white 02y - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.470T>C r.(?) p.(Leu157Pro) - Unknown - pathogenic g.71152429A>G g.71441383A>G - - DHCR7_000023 - PubMed: Fitzky et al. 1998 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 died neonatal; Patient 11 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
Legend   How to query