All variants in the DHCR7 gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
?/. 3i c.99-4G>A r.(=) p.(=) - - VUS g.71155265C>T g.71444219C>T - - DHCR7_000185 - PubMed: Almomani 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/+? 3i c.99-4G>A r.spl? p.? - - likely pathogenic g.71155265C>T g.71444219C>T - - DHCR7_000185 - - - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
-?/. - c.99-4G>A r.spl? p.? - - likely benign g.71155265C>T g.71444219C>T DHCR7(NM_001163817.1):c.99-4G>A (p.?), DHCR7(NM_001360.2):c.99-4G>A - DHCR7_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.99-4G>A r.spl? p.? - - likely benign g.71155265C>T g.71444219C>T DHCR7(NM_001163817.1):c.99-4G>A (p.?), DHCR7(NM_001360.2):c.99-4G>A - DHCR7_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.99-4G>A r.spl? p.? - - benign g.71155265C>T g.71444219C>T DHCR7(NM_001163817.1):c.99-4G>A (p.?), DHCR7(NM_001360.2):c.99-4G>A - DHCR7_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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