All variants in the NR0B1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. - c.323C>A r.(?) p.(Ser108Ter) - pathogenic g.30327158G>T g.30309041G>T - - NR0B1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.323C>A r.(?) p.(Ser108*) - pathogenic g.30327158G>T - - - NR0B1_000132 - - - - De novo - - - 0 - Wenjuan Qiu
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