Full data view for gene DHCR7

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

246 entries on 3 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     
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Germany - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N Eu 1/72 - - - DNA SEQ - - SLOS - - since age of 2 years diet at cholesterol; brother is A23 F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - fetus for retrospective diagnostic; gender is not sure ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? Ireland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Germany white 00y01m15d - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - Fetus for retrospective diagnostic gender is not sure ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - Fetus for retrospective diagnostic gender is not sure ? ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? Hungary white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - fetus died F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Parent #1 - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - fetus aborted ? ? United States white <00d - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Poland white 00y00m07d - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? Austria white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Denmark white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? Austria white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - ? ? Greece white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Parent #1 - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 10 from Krakowiak et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Parent #1 - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 11 from Krakowiak et al. 2000 F ? - - 00y00m28d - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Parent #1 - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 13 from Krakowiak et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Jira 2001 Patient P1 from Jira et al. 2001 F ? Netherlands white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Jira 2001 Patient P2 from Jira et al. 2001 M ? Netherlands white 00y00m01d - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Waterham 1998 Patient 2 from Waterham et al. 1998 ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Anstey 2005 Patient 4 from Anstey et al. 2005 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Waye 2007 Affected foetus 7 from Waye et al. 2007 ? ? Canada white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Waye 2007 Affected foetus 11 from Waye et al. 2007 ? ? - white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Blahakova 2007 456 pregnat women were examined in this study; Induced abortion after SLOS confirmation; Case 5 in table 1 from Blahakova et al. 2007 ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Patrono 2002 Patient IT2 from Patrono et al. 2002 M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Parent #1 - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Czech Republic white 00y01m - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Evans 2001 - ? ? Australia white 00y00m07d - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Evans 2001 - ? ? Australia Asian <00y00m00d - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Evans 2001 - ? ? Australia white 00y00m14d - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Evans 2001 - ? ? Australia white 00y05m - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Nowaczyk 2001 b - M ? Canada French-Canadian, Celtic - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Nowaczyk 2001 d - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Nowaczyk 2001 d - M ? - - 00y01m - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Nowaczyk 2001 d Patient reported by Wassif et al. (1998) M ? - - <00y00m00d - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Nowaczyk 2001 c - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Parent #1 - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Chemaitilly 2003 case report from Chemaitilly et al. (2003) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 - F ? Hungary white - - - - 1 István Balogh
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Parent #1 - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 patient 2 and 3 are brothers M ? Hungary white - - - - 1 István Balogh
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Parent #1 - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 patient 2 and 3 are brothers M ? Hungary white - - - - 1 István Balogh
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Parent #1 - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 - F ? Hungary white - - - - 1 István Balogh
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - 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
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - 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
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - 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
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - 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
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Paternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - 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
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Paternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 14 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Goodwin 2008 Patient 2 from Goodwin et al. (2008) ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 6 from Pappu et al. (2006) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 7 from Pappu et al. (2006) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 9 from Pappu et al. (2006) M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 12 from Pappu et al. (2006) M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 15 from Pappu et al. (2006) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 2nd mutation is missing, could not be identified; Patient 13 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Unknown - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient died with suspicion of SLOS, parental tests confirmed the diagnosis; Patient II from Jezela-Stanek et al. (2010) F ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Germany;Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Germany;Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Maternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - brother of A29 M ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - sister of A28 F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? Switzerland;Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? Switzerland;Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - fetus for retrospective diagnostic; gender is not sure ? ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - F ? Moldova;Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) - Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Ireland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Maternal (confirmed) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.964-1G>C r.spl p.(Gly322Lysfs*136) A Maternal (inferred) - pathogenic g.71146886C>G g.71435840C>G - - DHCR7_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - N EU 1/72 - - - DNA SEQ - - SLOS - - - M ? Germany white 00y01m15d - - - 1 Division of Human Genetics, Innsbruck
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