Full data view for gene DHCR7

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/+? 4 c.203T>C r.(?) p.(Leu68Pro) - Unknown - likely pathogenic g.71155157A>G g.71444111A>G - - DHCR7_000151 - PubMed: Ciara et al. 2004 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Waye 2005 Patient 1 from table 1 Waye et al. 2005 ? ? United States;Canada white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.203T>C r.(?) p.(Leu68Pro) - Maternal (confirmed) - likely pathogenic g.71155157A>G g.71444111A>G - - DHCR7_000151 - PubMed: Ciara et al. 2004 - - Unknown - - - 0 - DNA SEQ - - SLOS - - brother of A194 M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.203T>C r.(?) p.(Leu68Pro) - Maternal (confirmed) - likely pathogenic g.71155157A>G g.71444111A>G - - DHCR7_000151 - PubMed: Ciara et al. 2004 - - Unknown - - - 0 - DNA SEQ - - SLOS - - brother of A193 M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
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