All variants in the NR0B1 gene

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

10 entries on 1 page. Showing entries 1 - 10.
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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_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(28315338_28315338)_(30327481_30671654)del - - - NR0B1_000115 - PubMed: Carrie 1999 - - Unknown - - - 0 - Johan den Dunnen
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(28606165_28771534)_(30746860_31140035)del - - - NR0B1_000112 - PubMed: Carrie 1999 - - Unknown - - - 0 - Johan den Dunnen
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(28807543_29155309)_(30327481_30671654)del - - - NR0B1_000113 - PubMed: Carrie 1999 - - Unknown - - - 0 - Johan den Dunnen
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(29686622_29935580)_(30327481_30671654)del - - - NR0B1_000114 - PubMed: Carrie 1999 - - Unknown - - - 0 - Johan den Dunnen
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del - - DMD_050080 deletion incl. IL1RAPL1, NR0B1, GK PubMed: Zhang 2004 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/+ _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic (recessive) g.(25034000_28807460)_(31645980_31676106)del - - - DMD_040078 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_30322695)_(30746860_?)del - - - NR0B1_000002 large deletion, incl. GKD gene PubMed: Guo 1995 - - Germline - - - 0 - Bert Bakker
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_30322695)_(30327481_?)del - - - NR0B1_000001 - PubMed: Guo 1995 - - Germline - - - 0 - Bert Bakker
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(30256800_30322695)_(30327481_?)del - - - NR0B1_000031 deletion does not include DXS319 PubMed: Kinoshita 1997 - - Germline/De novo (untested) - - - 0 - Bert Bakker
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_30322695)_(30327481_?)del - - - NR0B1_000001 - PubMed: Kinoshita 1997 - - Germline/De novo (untested) - - - 0 - Bert Bakker
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