Full data view for gene DHCR7

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

24 entries on 1 page. Showing entries 1 - 24.
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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.1055G>A r.(?) p.(Arg352Gln) - Parent #1 - pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - - fetus aborted ? ? United States white <00d - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1055G>A r.(?) p.(Arg352Gln) - Paternal (inferred) - pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - - - ? ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1055G>A r.(?) p.(Arg352Gln) - Paternal (confirmed) - pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - - - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1055G>A r.(?) p.(Arg352Gln) - Paternal (confirmed) - pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Waye 2007 affected foetus 14 from Waye et al. 2007 ? ? Ireland;Ukraine white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1055G>A r.(?) p.(Arg352Gln) - Paternal (inferred) - pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Matsumoto 2005 Patient 96003 from Matsumoto et al. 2005 M ? Japan Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Paternal (inferred) - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Matsumoto 2005 Patient 02003 from Matsumoto et al. 2005 M ? Japan Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Unknown - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Matsumoto 2005 Patient 04002 Matsumoto et al. 2005 F ? Japan Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Paternal (inferred) - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Al-Owain 2012 Brother of Patient 3 from Al-Owain; Child of consanguineous parents; Patient 2 from Al-Owain et al. (2012) M ? Saudi Arabia Arabs - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Paternal (inferred) - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Al-Owain 2012 Brother of Patient 2 from Al-Owain; Child of consanguineous parents; Patient 3 from Al-Owain et al. (2012) M ? Saudi Arabia Arabs - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Paternal (inferred) - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Al-Owain 2012 Cousine of the two brothers (patient 2 and 3) from Al-Owain 2012; Child of consanguineous parents.; Patient 4 from Al-Owain et al. (2012) F ? Saudi Arabia Arabs - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1055G>A r.(?) p.(Arg352Gln) - Parent #2 - pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - - fetus aborted ? ? United States white <00d - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1055G>A r.(?) p.(Arg352Gln) - Maternal (inferred) - pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - - - ? ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1055G>A r.(?) p.(Arg352Gln) - Maternal (inferred) - pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Matsumoto 2005 Patient 96003 from Matsumoto et al. 2005 M ? Japan Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Unknown - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Matsumoto 2005 Patient 97021 from Matsumoto et al. (2005) M ? Japan Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Unknown - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Matsumoto 2005 Patient 99010 from Matsumoto et al. 2005 M ? Japan Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Maternal (inferred) - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Matsumoto 2005 Patient 02003 from Matsumoto et al. 2005 M ? Japan Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Unknown - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Matsumoto 2005 Patient 04004 from Matsumoto et al. 2005 F ? Japan Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Unknown - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Matsumoto 2005 Patient 04005 from Matsumoto et al. 2005 M ? Japan Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Maternal (inferred) - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Al-Owain 2012 Brother of Patient 3 from Al-Owain; Child of consanguineous parents; Patient 2 from Al-Owain et al. (2012) M ? Saudi Arabia Arabs - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Maternal (inferred) - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Al-Owain 2012 Brother of Patient 2 from Al-Owain; Child of consanguineous parents; Patient 3 from Al-Owain et al. (2012) M ? Saudi Arabia Arabs - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1055G>A r.(?) p.(Arg352Gln) - Maternal (inferred) - likely pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Al-Owain 2012 Cousine of the two brothers (patient 2 and 3) from Al-Owain 2012; Child of consanguineous parents.; Patient 4 from Al-Owain et al. (2012) F ? Saudi Arabia Arabs - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1055G>A r.(?) p.(Arg352Gln) - Unknown - pathogenic g.71146794C>T g.71435748C>T - - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 4 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1055G>A r.(?) p.(Arg352Gln) - Unknown - pathogenic g.71146794C>T g.71435748C>T Arg446Gln - DHCR7_000172 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown - - - - - 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
+/. - c.1055G>A r.(?) p.(Arg352Gln) - Unknown - pathogenic g.71146794C>T g.71435748C>T DHCR7(NM_001360.3):c.1055G>A (p.R352Q) - DHCR7_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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