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.
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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     
-/. - c.126C>T r.(?) p.(Ser42=) - - benign g.71155234G>A g.71444188G>A DHCR7(NM_001360.2):c.126C>T (p.S42=) - DHCR7_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.126C>T r.(?) p.(Ser42=) - - likely benign g.71155234G>A - DHCR7(NM_001360.2):c.126C>T (p.S42=) - DHCR7_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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