All variants in the DHCR7 gene

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

7 entries on 1 page. Showing entries 1 - 7.
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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     
+?/+? 5_5i c.385_412+5del r.spl p.? J - likely pathogenic g.71153306_71153338del g.71442260_71442292del - - DHCR7_000016 - PubMed: De Brasi et al. 1999 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+?/+? 5_5i c.385_412+5del r.spl p.? - - likely pathogenic g.71153306_71153338del g.71442260_71442292del - - DHCR7_000016 - PubMed: De Brasi et al. 1999 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+?/+? 5_5i c.385_412+5del r.spl p.? J - likely pathogenic g.71153306_71153338del g.71442260_71442292del - - DHCR7_000016 - PubMed: De Brasi et al. 1999 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+?/+? 5_5i c.385_412+5del r.spl p.? - - likely pathogenic g.71153306_71153338del g.71442260_71442292del - - DHCR7_000016 - PubMed: De Brasi et al. 1999 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+?/+? 5_5i c.385_412+5del r.spl p.? J - likely pathogenic g.71153306_71153338del g.71442260_71442292del - - DHCR7_000016 - PubMed: De Brasi et al. 1999 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 5_5i c.385_412+5del r.spl p.? - - pathogenic g.71153306_71153338del g.71442260_71442292del - - DHCR7_000016 altered RNA processing PubMed: De Brasi et al. 1999 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
?/. - c.385_412+5del r.spl? p.? - - VUS g.71153306_71153338del g.71442260_71442292del DHCR7(NM_001163817.1):c.385_412+5del (p.?) - DHCR7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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