All variants in the NR0B1 gene

Information The variants shown are described using the NM_000475.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/. 1 c.704G>A r.(?) p.(Trp235*) - pathogenic g.30326777C>T g.30308660C>T - - NR0B1_000012 - PubMed: Muscatelli 1994; OMIM:var0005 - - Germline - - MseI+ 0 - Bert Bakker
+/. 1 c.704G>A r.(?) p.(Trp235*) - pathogenic g.30326777C>T g.30308660C>T - - NR0B1_000012 - PubMed: Zanaria 1994 - - Germline - - MseI+ 0 - Bert Bakker
+/. 1 c.704G>A r.(?) p.(Trp235*) - pathogenic g.30326777C>T g.30308660C>T - - NR0B1_000012 - PubMed: Zhang 1998 - - Germline - - MseI+ 0 - Bert Bakker
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