Full data view for gene DHCR7

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

50 entries on 1 page. Showing entries 1 - 50.
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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.976G>T r.(?) p.(Val326Leu) A Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) A Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) A Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Austria;Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Unknown - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - brother of A194 M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) A Unknown - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Witsch-Baumgartner 2000 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Unknown - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (inferred) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? - - 00y00m05d - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - brother of A193 M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) A Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (inferred) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Poland white 02y - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Poland white 00y00m20d - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) A Maternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Parent #1 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 52 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Parent #1 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 70 from Yu et al. 2000 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Parent #1 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - F ? Czech Republic white - - - - 1 Division of Human Genetics, Innsbruck
+/? 9 c.976G>T r.(?) p.(Val326Leu) - Parent #1 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 - F ? Hungary white - - - - 1 István Balogh
+/+ 9 c.976G>T r.(?) p.(Val326Leu) A Paternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - 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
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Unknown - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 5 from Jezela-Stanek et al. (2010) F ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Unknown - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Prenatal diagnosis; Genotype assumed to be identical with sibling affected with SLOS; Patient 8 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) A Maternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Maternal (inferred) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Maternal (inferred) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Maternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Maternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white 00y02m - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Maternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white 00y00m07d - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Maternal (inferred) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Poland white 02y - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Maternal (confirmed) - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Poland white 00y00m02d - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Parent #2 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 55 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) A Parent #2 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 75 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Parent #2 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 117 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Parent #2 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - F ? Slovakia (Slovak Republic) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Parent #2 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Slovakia (Slovak Republic) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Parent #2 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Czech Republic white 00y01m - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Parent #2 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Czech Republic white 00y01m - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Unknown - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Evans 2001 - ? ? Australia white 00y05m - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Unknown - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Mueller 2003 At 3 months of age, cholesterol supplementation was initiated at 100 mg/kg/day; Case report form Mueller et al. (2003) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Parent #2 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 - M ? Hungary white - - - - 1 István Balogh
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Parent #2 - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Balogh 2012 - M ? Hungary white - - - - 1 István Balogh
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Unknown - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Pappu 2006 Patient 4 from Pappu et al. (2006) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Unknown - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Jezela-Stanek 2010 Patient 9 from Jezela-Stanek et al. (2010) M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.976G>T r.(?) p.(Val326Leu) - Unknown - pathogenic g.71146873C>A g.71435827C>A - - DHCR7_000006 - PubMed: Fitzky et al. 1998 - rs80338859 Unknown - - - - - 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
+/. - c.976G>T r.(?) p.(Val326Leu) - Unknown - pathogenic g.71146873C>A g.71435827C>A DHCR7(NM_001360.3):c.976G>T (p.V326L) - DHCR7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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