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.356A>G r.(?) p.(His119Arg) - - VUS g.71153365T>C g.71442319T>C DHCR7(NM_001360.2):c.356A>G (p.H119R) - DHCR7_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.356A>G r.(?) p.(His119Arg) - - likely pathogenic (recessive) g.71153365T>C g.71442319T>C - - DHCR7_000277 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline - - - 0 - Johan den Dunnen
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