Full data view for gene DHCR7

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

119 entries on 2 pages. Showing entries 1 - 100.
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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.452G>A r.(?) p.(Trp151*) F Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Austria - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Switzerland;Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Switzerland;Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Paternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - ? ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? United Kingdom (Great Britain);Cyprus white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - Fetus for retrospective diagnistic gender is not sure ? ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? United States white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? United States white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Ciara 2004 - F ? Poland white 00y01m - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Greece white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Poland white 00y02m - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Poland white 00y00m02d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - ? ? Lithuania white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Argentina Hispanic - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - ? ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #1 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 2 from Krakowiak et al. 2000 M ? Panama - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Blahakova 2007 456 pregnat women were examined in this study; Induced abortion after SLOS confirmation; Case 1 in table 1 from Blahakova et al. 2007 ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Blahakova 2007 456 pregnat women were examined in this study; Induced abortion after SLOS confirmation; Case 2 in table 1 from Blahakova et al. 2007 ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Blahakova 2007 456 pregnat women were examined in this study; Prenatal screening was negative.; Case 6 from Blahakova et al. 2007 ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Blahakova 2007 456 pregnat women were examined in this study; Prenatal screening was negative.; Case 7 from Blahakova et al. 2007 ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #1 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - F ? Slovakia (Slovak Republic) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #1 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - F ? Slovakia (Slovak Republic) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #1 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Slovakia (Slovak Republic) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #1 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - F ? Czech Republic white 02y - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #1 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Czech Republic white 00y01m - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Czech Republic white 00y00m02d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Slovakia (Slovak Republic) white 00y00m25d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #1 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Slovakia (Slovak Republic) white 00y00m26d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Bzúch 2000 - M ? - - 00y00m25d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Nowaczyk 2003 Case report form Nowaczyk et al. (2003) M ? Russian Federation Tata, Jewish-Ashkenazi <00y00m00d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #1 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 - F ? Hungary white - - - - 1 István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #1 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 - M ? Hungary white - - - - 1 István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #1 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 - M ? Hungary white - - - - 1 István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #1 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 - F ? Hungary white - - - - 1 István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Bzduch 2007 Patient described in Bzduch et al. (2007) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 3 from Pappu et al. (2006) M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 3 from Jezela-Stanek et al. (2010) F ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 4 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 6 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Prenatal diagnosis; Genotype assumed to be identical with sibling affected with SLOS; Patient 7 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 9 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 died neonatal; Patient 11 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 died neonatal; Patient 14 from Jezela-Stanek et al. (2010) F ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 died neonatal; Patient 15 from Jezela-Stanek et al. (2010) F ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 16 from Jezela-Stanek et al. (2010) M ? Poland white 00y02m - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 15 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 died neonatal; Patient 18 form Jezela-Stanek et al. (2010) F ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 died neonatal; Patient 19 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 20 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Paternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 21 from Jezela-Stanek et al. (2010) M ? Poland white 00y00m01d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Second mutation is missing because the father did not come for testing during study; Patient 23 from Jezela-Stanek et al. (2010) M ? Poland white <00y00m00d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Austria - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) B Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Austria;Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Maternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - ? ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - ? ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - diet with cholesterol M ? Finland;Morocco white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Paternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - - - DNA SEQ - - SLOS - - - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) B Maternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - ? ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? - - 00y00m05d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Poland white 00y00m20d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - M ? Switzerland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - F ? Greece white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - - - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Blahakova 2007 456 pregnat women were examined in this study; Induced abortion after SLOS confirmation; Case 3 in table 1 from Blahakova et al. 2007 ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Unknown - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Patrono 2002 Patient 1 from Patrono et al. 2002 M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Czech Republic white 00y00m02d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Slovakia (Slovak Republic) white 00y00m25d - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Bzúch 2000 - M ? - - 00y00m25d - - - 1 Division of Human Genetics, Innsbruck
+/? 6 c.452G>A r.(?) p.(Trp151*) - Parent #2 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 - M ? Hungary white - - - - 1 István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Parent #2 - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 - M ? Hungary white - - - - 1 István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Haas 2005 Patient described in D. Haas et al. 2005 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (inferred) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Bzduch 2007 Patient described in Bzduch et al. (2007) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - Maternal (confirmed) - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - - - DNA SEQ - - SLOS - PubMed: Liss 2008 Patient was born at 37th week and died at age 3 months.; Patient described in Liss et al. (2008) ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
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