Full data view for gene DHCR7

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

16 entries on 1 page. Showing entries 1 - 16.
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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     
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) D Paternal (confirmed) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) A Paternal (confirmed) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - - fetus for retrospective diagnostic gender is not sure ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) - Paternal (confirmed) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - - - M ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) - Paternal (confirmed) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) - Maternal (confirmed) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) F Paternal (inferred) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? France white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) - Paternal (inferred) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? United States white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) - Parent #2 - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Witsch-Baumgartner 2000 - ? ? United States white, French - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) D Paternal (confirmed) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) F Maternal (inferred) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? France white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) - Maternal (inferred) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? United States white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) - Parent #2 - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - 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
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) - Maternal (confirmed) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Waye 2007 Affected foetus 7 from Waye et al. 2007 ? ? Canada white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1210C>T r.(?) p.(Arg404Cys) D Maternal (confirmed) - pathogenic g.71146639G>A g.71435593G>A - - DHCR7_000008 - PubMed: Fitzky et al. 1998 - rs61757582 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Waye 2007 affected foetus 12-1 from Waye et al. 2007 ? ? Canada white - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.1210C>T r.(?) p.(Arg404Cys) - Unknown - pathogenic g.71146639G>A g.71435593G>A DHCR7(NM_001360.3):c.1210C>T (p.R404C) - DHCR7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1210C>T r.(?) p.(Arg404Cys) - Unknown - pathogenic g.71146639G>A - DHCR7(NM_001360.3):c.1210C>T (p.R404C) - DHCR7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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