All variants in the DHCR7 gene

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

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
-/. - c.207T>C r.(?) p.(Thr69=) - - benign g.71155153A>G g.71444107A>G DHCR7(NM_001360.2):c.207T>C (p.T69=) - DHCR7_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.207T>C r.(?) p.(Thr69=) - - benign g.71155153A>G g.71444107A>G DHCR7(NM_001360.2):c.207T>C (p.T69=) - DHCR7_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
Legend   How to query