All variants in the DHCR7 gene

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     

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     

Owner     
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) K - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) F - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) K - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) C - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) P - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) F - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J - 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 - Division of Human Genetics, Innsbruck
+/+ 4 c.278C>T r.(?) p.(Thr93Met) - - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/. 4 c.278C>T r.(?) p.(Thr93Met) - - pathogenic g.71155082G>A g.71444036G>A NM_001163817: c.C278T; p.T93M - DHCR7_000012 - PubMed: Karaca 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.278C>T r.(?) p.(Thr93Met) - - 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 - VKGL-NL_Groningen
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