Full data view for gene DHCR7

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

25 entries on 1 page. Showing entries 1 - 25.
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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.1342G>A r.(?) p.(Glu448Lys) - Paternal (confirmed) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Paternal (confirmed) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Parent #1 - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - - - F ? United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Paternal (confirmed) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Parent #1 - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 3 from Yu et al. 2000 F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Paternal (inferred) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Anstey 2005 Patient 3 from Anstey et al. 2005 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Paternal (inferred) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Maternal (confirmed) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Unknown - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Witsch-Baumgartner 2000 - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Parent #2 - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? Germany;United Kingdom (Great Britain) white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Maternal (confirmed) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Maternal (confirmed) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Maternal (confirmed) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Maternal (confirmed) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - - - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Parent #2 - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Yu 2000 Patient 300-3 from Yu et al. 2000 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Parent #2 - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Krakowiak 2000 Patient 11 from Krakowiak et al. 2000 F ? - - 00y00m28d - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Maternal (inferred) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Anstey 2005 Patient 3 from Anstey et al. 2005 M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Maternal (inferred) - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - PubMed: De Brasi 1999 - ? ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Unknown - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Evans 2001 - ? ? Australia white 00y00m14d - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Parent #2 - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Langius 2003 Patient C from Langius et al. (2003) F ? Netherlands white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Unknown - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 Unknown - - - - - DNA SEQ - - SLOS - PubMed: Bukelis 2007 Patient described in Bukelis et al. (2007) M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9 c.1342G>A r.(?) p.(Glu448Lys) - Unknown - pathogenic g.71146507C>T g.71435461C>T - - DHCR7_000021 - PubMed: De Brasi et al. 1999 - rs80338864 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
+/. - c.1342G>A r.(?) p.(Glu448Lys) - Unknown - pathogenic g.71146507C>T g.71435461C>T DHCR7(NM_001163817.1):c.1342G>A (p.(Glu448Lys)), DHCR7(NM_001360.3):c.1342G>A (p.E448K) - DHCR7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1342G>A r.(?) p.(Glu448Lys) - Both (homozygous) - likely pathogenic (recessive) g.71146507C>T g.71435461C>T - - DHCR7_000021 ACMG PS4mod, PM2, PM3, PP3 PubMed: Kessel 2021 VCV000006792.6 - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT CCMR00667 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
+/. - c.1342G>A r.(?) p.(Glu448Lys) - Unknown - pathogenic g.71146507C>T - DHCR7(NM_001163817.1):c.1342G>A (p.(Glu448Lys)), DHCR7(NM_001360.3):c.1342G>A (p.E448K) - DHCR7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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