All variants in the NR0B1 gene

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

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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.839del r.(?) p.(Leu280ArgfsTer92) - pathogenic g.30326642del g.30308525del - - NR0B1_000018 - PubMed: Yanase 1996; OMIM:var0007 - - De novo - - MspI+ 0 - Bert Bakker
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