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.498G>A r.(?) p.(=) - pathogenic g.30326983C>T g.30308866C>T - - NR0B1_000096 recurrent variant; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) PubMed: Tarpey 2009 - rs2269345 Germline - 28/208 - 0 - Johan den Dunnen
-/. - c.498G>A r.(?) p.(Arg166=) - benign g.30326983C>T g.30308866C>T NR0B1(NM_000475.5):c.498G>A (p.R166=) - NR0B1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.498G>A r.(?) p.(Arg166=) - benign g.30326983C>T g.30308866C>T NR0B1(NM_000475.5):c.498G>A (p.R166=) - NR0B1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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