Full data view for gene NR0B1

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.498G>A r.(?) p.(=) Maternal (inferred) - 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 - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 - - 28 Johan den Dunnen
-/. - c.498G>A r.(?) p.(Arg166=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.498G>A r.(?) p.(Arg166=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
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