Full data view for gene DHCR7

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

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) A Paternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Germany;Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Paternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Paternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Moldova;Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Paternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Ireland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Paternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Paternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Paternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Paternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Paternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Parent #1 - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 66 from Yu et al. 2000; Sibling from Patient 67 Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) A Parent #1 - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 67 from Yu et al. 2000; Sibling from Patient 66 Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Parent #1 - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 90 from Yu et al. 2000 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Maternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: De Brasi 1999 only 1 mutation described in this patient ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Maternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: De Brasi 1999 only 1 mutation described in this patient ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) K Paternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 3 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Parent #1 - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Chae 2007 Patient described in Chae et al. (2007) F ? Korea, South (Republic) Asian - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Unknown - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Genotype asssumed to be identical with sibling affected with SLOS; Patient 25 from Jezela-Stanek et al. (2010) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) M Maternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Maternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - Fetus for retrospective diagnistic gender is not sure ? ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) B Maternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) A Maternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) A Maternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Maternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Denmark white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Unknown - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 3 from Pappu et al. (2006) M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) M Unknown - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 15 from Pappu et al. (2006) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Unknown - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 3 from Jezela-Stanek et al. (2010) F ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Unknown - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - 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
+/+ 9 c.1054C>T r.(?) p.(Arg352Trp) - Unknown - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 15 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1054C>T r.(?) p.Arg352Trp - Maternal (confirmed) - pathogenic g.71146795G>A g.71435749G>A - - DHCR7_000005 - PubMed: Fitzky et al. 1998 - rs80338860 Germline - - - - - DNA SEQ blood - SLOS - - - F no Poland;Turkey white >01y - - - 1 Division of Human Genetics, Innsbruck
+/. - c.1054C>T r.(?) p.(Arg352Trp) - Unknown - pathogenic g.71146795G>A g.71435749G>A DHCR7(NM_001360.3):c.1054C>T (p.R352W) - DHCR7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1054C>T r.(?) p.(Arg352Trp) - Unknown - likely pathogenic g.71146795G>A g.71435749G>A DHCR7(NM_001360.3):c.1054C>T (p.R352W) - DHCR7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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