Full data view for gene DHCR7

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

96 entries on 1 page. Showing entries 1 - 96.
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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.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Germany;Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - since 14 years cholesterol supplementation F ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - see paper S. Kalb et al 2010 M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - ? ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - ? ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Greece white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - ? ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient Nr 2 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 7 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 33 from Yu et al. 2000 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 71 from Yu et al. 2000; Sibling from Patient 88 Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 75 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 88 from Yu et al. 2000; Sibling of Patient 71 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient H1 from Yu et al. 2000; Fibroblasts only, died before plasma or tissue could be obtained. M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient R1 from Yu et al. 2000; Fibroblasts only, died before plasma or tissue could be obtained. F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 1 from Krakowiak et al. 2000 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 3 from Krakowiak et al. 2000 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 4 from Karkowiak et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Jira 2001 Patient P12 from Jira et al. 2001 M ? United Kingdom (Great Britain) white, Scotland - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Anstey 2005 Patient 5 from Anstey et al. 2005 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Patrono 2002 Patient 1 from Patrono et al. 2002 M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Paternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 only 1 mutation described in this patient ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 only 1 mutation described in this patient ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Parent #1 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Babovic-Vuksanovic 2005 Patient descried in Babovic-Vuksanovic et al. 2005 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 1 from Scaldo et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 2 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 12 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 1 from Nowaczyk et al. 2004 M ? Cuba Spanish-African - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 2 from Nowaczyk et al. 2004 M ? Cuba Spanish - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 3 from Nowaczyk et al. 2004 M ? Cuba Spanish - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 4 from Nowaczyk et al. 2004 F ? Cuba Spanish - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 5 from Nowaczyk et al. 2004 F ? Cuba Spanish - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 6 from Nowaczyk et al. 2004 F ? Cuba Spanish - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 7 from Nowaczyk et al. 2004 F ? Cuba Spanish - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 8 from Nowaczyk et al. 2004 F ? Cuba Spanish - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 9 from Nowaczyk et al. 2004 M ? Cuba Spanish - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patinet 10 from Nowaczyk et al. 2004 M ? Cuba Spanish - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Paternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 11 from Nowaczyk et al. 2004 F ? Canada Italian - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 12 form Nowaczyk et al. 2004 M ? Canada Portuguese - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 13 from Nowaczyk et al. 2004 M ? Canada Greek - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 14 from Nowaczyk et al. 2004 F ? Canada Portuguese - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) K Unknown - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Pateint 15 from Nowaczyk et al. 2004 M ? Canada Irish-Ukrainian - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Ireland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - see paper S. Kalb et al 2010 M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Maternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) F Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) K Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Maternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - ? ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) C Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - ? ? Greece white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) P Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) F Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - - - ? ? Greece white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Parent #2 - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 2 from Krakowiak et al. 2000 M ? Panama - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A Maternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 4 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 5 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 6 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 8 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 9 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Maternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 10 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Maternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 2 from Nowaczyk et al. 2004 M ? Cuba Spanish - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J Maternal (inferred) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - DNA SEQ - - SLOS - PubMed: Nowaczyk 2004 Patient 11 from Nowaczyk et al. 2004 F ? Canada Italian - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - Paternal (confirmed) - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - - - 0 - DNA SEQ blood - SLOS - - - M no (United Kingdom (Great Britain)) white >00y 0 - - 1 Division of Human Genetics, Innsbruck
+/. 4 c.278C>T r.(?) p.(Thr93Met) - Both (homozygous) - pathogenic g.71155082G>A g.71444036G>A NM_001163817: c.C278T; p.T93M - DHCR7_000012 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES hCK, SLOS 26539891-FamHOU2231PatBAB5866 PubMed: Karaca 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Turkey - - 0 - - 2 Johan den Dunnen
+/. - c.278C>T r.(?) p.(Thr93Met) - Unknown - pathogenic g.71155082G>A g.71444036G>A DHCR7(NM_001360.2):c.278C>T (p.T93M) - DHCR7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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