Full data view for gene DHCR7

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

20 entries on 1 page. Showing entries 1 - 20.
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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.1228G>A r.(?) p.(Gly410Ser) - Paternal (inferred) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - - Fetus for respective diagnostic gender is not sure ? ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) F Paternal (inferred) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - - patient died at 8 months M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Paternal (confirmed) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Paternal (inferred) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Paternal (confirmed) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 6 from Scalco et al. 2005 ? ? Brazil mixed from multiple European immigrant populations - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) B Paternal (confirmed) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Scalco 2005 Patient 7 from Scalco et al. 2005 ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Maternal (confirmed) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Maternal (confirmed) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Maternal (inferred) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - - Fetus for respective diagnostic gender is not sure ? ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) F Maternal (inferred) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - - patient died at 8 months M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Maternal (confirmed) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - - - M ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Maternal (inferred) - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Parent #2 - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient R1 from Yu et al. 2000; Fibroblasts only, died before plasma or tissue could be obtained. F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Parent #2 - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - F ? Slovakia (Slovak Republic) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Parent #2 - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Kozák 2000 - M ? Slovakia (Slovak Republic) white 00y00m26d - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Parent #2 - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Chemaitilly 2003 case report from Chemaitilly et al. (2003) F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1228G>A r.(?) p.(Gly410Ser) - Parent #2 - pathogenic g.71146621C>T g.71435575C>T - - DHCR7_000003 - PubMed: Fitzky et al. 1998 - rs80338862 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Babovic-Vuksanovic 2005 Patient descried in Babovic-Vuksanovic et al. 2005 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.1228G>A r.(?) p.(Gly410Ser) - Unknown - pathogenic g.71146621C>T g.71435575C>T DHCR7(NM_001360.2):c.1228G>A (p.G410S), DHCR7(NM_001360.3):c.1228G>A (p.G410S) - DHCR7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1228G>A r.(?) p.(Gly410Ser) - Unknown - likely pathogenic g.71146621C>T g.71435575C>T DHCR7(NM_001360.2):c.1228G>A (p.G410S), DHCR7(NM_001360.3):c.1228G>A (p.G410S) - DHCR7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1228G>A r.(?) p.(Gly410Ser) - Unknown - likely pathogenic g.71146621C>T - DHCR7(NM_001360.2):c.1228G>A (p.G410S), DHCR7(NM_001360.3):c.1228G>A (p.G410S) - DHCR7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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