Full data view for gene DHCR7

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/+ 3 c.3G>A r.(?) p.(Met1?) - Parent #1 - pathogenic g.71155996C>T g.71444950C>T - - DHCR7_000189 - PubMed: Waterham et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Langius 2003 Pateint A from Langius et al. (2003); brother of patient B Langius et al. (2003) M ? Netherlands white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.3G>A r.(?) p.(Met1?) - Parent #1 - pathogenic g.71155996C>T g.71444950C>T - - DHCR7_000189 - PubMed: Waterham et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Langius 2003 Patient B from Langius et al. (2003); brother of patient A Langius et al. (2003) M ? Netherlands white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.3G>A r.(?) p.(Met1?) - Parent #1 - pathogenic g.71155996C>T g.71444950C>T - - DHCR7_000189 - PubMed: Waterham et al. 2000 - - Unknown - - - 0 - DNA SEQ - - SLOS - PubMed: Langius 2003 Patient C from Langius et al. (2003) F ? Netherlands white - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.3G>A r.(?) p.(Met1?) - Unknown - pathogenic g.71155996C>T g.71444950C>T DHCR7(NM_001360.2):c.3G>A (p.M1?) - DHCR7_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3G>A r.(?) p.(Met1?) - Unknown - pathogenic g.71155996C>T g.71444950C>T DHCR7(NM_001360.2):c.3G>A (p.M1?) - DHCR7_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3G>A r.(?) p.(Met1?) - Unknown - pathogenic g.71155996C>T - DHCR7(NM_001360.2):c.3G>A (p.M1?) - DHCR7_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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