All variants in the DHCR7 gene

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     

Owner     
+/+ 7 c.725G>A r.(?) p.(Arg242His) - - pathogenic g.71150031C>T g.71438985C>T - - DHCR7_000022 - PubMed: Krakowiak et al. 2000 - rs80338857 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.725G>A r.(?) p.(Arg242His) - - pathogenic g.71150031C>T g.71438985C>T - - DHCR7_000022 - PubMed: Krakowiak et al. 2000 - rs80338857 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.725G>A r.(?) p.(Arg242His) - - pathogenic g.71150031C>T g.71438985C>T - - DHCR7_000022 - PubMed: Krakowiak et al. 2000 - rs80338857 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.725G>A r.(?) p.(Arg242His) - - pathogenic g.71150031C>T g.71438985C>T - - DHCR7_000022 - PubMed: Krakowiak et al. 2000 - rs80338857 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.725G>A r.(?) p.(Arg242His) - - pathogenic g.71150031C>T g.71438985C>T - - DHCR7_000022 - PubMed: Krakowiak et al. 2000 - rs80338857 Unknown - - - 0 - István Balogh
+/+ 7 c.725G>A r.(?) p.(Arg242His) - - pathogenic g.71150031C>T g.71438985C>T - - DHCR7_000022 - PubMed: Krakowiak et al. 2000 - rs80338857 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.725G>A r.(?) p.(Arg242His) A - pathogenic g.71150031C>T g.71438985C>T - - DHCR7_000022 - PubMed: Krakowiak et al. 2000 - rs80338857 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 7 c.725G>A r.(?) p.(Arg242His) - - pathogenic g.71150031C>T g.71438985C>T - - DHCR7_000022 - PubMed: Krakowiak et al. 2000 - rs80338857 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/. - c.725G>A r.(?) p.(Arg242His) - - pathogenic g.71150031C>T g.71438985C>T DHCR7(NM_001360.2):c.725G>A (p.R242H) - DHCR7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.725G>A r.(?) p.(Arg242His) - - pathogenic g.71150031C>T g.71438985C>T DHCR7(NM_001360.2):c.725G>A (p.R242H) - DHCR7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.725G>A r.(?) p.(Arg242His) - - likely pathogenic g.71150031C>T g.71438985C>T - - DHCR7_000022 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80338857 Germline - 1/2794 individuals - 0 - Mohammed Faruq
+/. - c.725G>A r.(?) p.(Arg242His) - - pathogenic g.71150031C>T - DHCR7(NM_001360.2):c.725G>A (p.R242H) - DHCR7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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