Full data view for gene DHCR7

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+?/+? 6 c.440G>A r.(?) p.(Gly147Asp) - Unknown - likely pathogenic g.71152459C>T g.71441413C>T - - DHCR7_000158 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Witsch-Baumgartner 2000 - ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 6 c.440G>A r.(?) p.(Gly147Asp) - Paternal (confirmed) - likely pathogenic g.71152459C>T g.71441413C>T - - DHCR7_000158 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - 0 - RNA SEQ - - SLOS - - - F ? Sweden white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 6 c.440G>A r.(?) p.(Gly147Asp) - Parent #1 - likely pathogenic g.71152459C>T g.71441413C>T - - DHCR7_000158 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Petracchi 2011 intrauterine demise at 22 weeks; Patient described in Petracchi et al. (2011) ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 6 c.440G>A r.(?) p.(Gly147Asp) - Parent #2 - likely pathogenic g.71152459C>T g.71441413C>T - - DHCR7_000158 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 16 from Krakowiak et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
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