Full data view for gene DHCR7

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

2 entries on 1 page. Showing entries 1 - 2.
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     
+/+ 4 c.185A>T r.(?) p.(Asp62Val) - Maternal (confirmed) - pathogenic g.71155175T>A g.71444129T>A - - DHCR7_000119 - PubMed: Waterham et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.185A>T r.(?) p.(Asp62Val) - Unknown - pathogenic g.71155175T>A g.71444129T>A - - DHCR7_000119 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
Legend   How to query