All variants in the NR0B1 gene

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

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

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.0 r.0 p.0 - pathogenic (recessive) g.(25040000_28600000)_(33229674_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(25040000_28600000)_(33229674_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(28606165_29935580)_(33229674_?)del - - - DMD_040080 deletion incl. IL1RAPL1 (partial), NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(30000000_30322000)_(33229674_?)del - - - DMD_040081 deletion incl. NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_25020000)_(32235181_32305645)del - - - DMD_003417 deletion incl. ARX, IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown - - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(31893491_31947712)del g.(?_31119228)_(31875374_31929595)del - - DMD_054880 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(25040000_28600000)_(31241239_31279071)del - - - DMD_003416 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(25040000_28600000)_(31241239_31279071)del - - - DMD_003416 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(25000000_28500000)_(33357726_37000000)del - - - DMD_003415 ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted PubMed: Piko 2009 - - Germline - - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(25000000_28500000)_(33357726_37000000)del - - - DMD_003415 ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted PubMed: Piko 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(32867938_33038255)del g.(?_31119228)_(32849821_33020138)del - - DMD_050380 - PubMed: Loke 2009, PubMed: Tomar 2019 - - Germline/De novo (untested) - - - 0 - Poh San Lai
+/. - c.0 r.0 p.0 - pathogenic (recessive) g.(29686622_29935580)_(31366752_31462597)del g.(29668505_29917463)_(31348635_31444480)del - - DMD_066680 deletion involving GK and NR0B1 and part of IL1RAPL1 and DMD PubMed: Korkut 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.0 r.0 p.0 - pathogenic (recessive) g.(28200000_28500000)_(31986632_32235032)del g.(28180000_28480000)_(31968515_32216915)del - - DMD_066681 3.88 Mb deletion covering IL1RAPL1, GK, NR0B1 and part of DMD PubMed: Korkut 2016 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.0 r.0 p.0 - pathogenic (recessive) g.(25400000_25878399)_(31987991_32000000)del - hg19 25878399_31987991del - DMD_066683 6.09 Mb deletion including IL1RAPL1, DAX1, GK and last 37 exons of DMD PubMed: Heide 2015 - - De novo - - - 0 X-inactivation CpG island 5' CAG repeat AR gene 59%:41% Johan den Dunnen
+/. - c.0 r.0 p.0 - pathogenic (recessive) g.(28900000_29008175)_(31496701_31600000)del - hg19 29008175–31496701del - DMD_066684 2.49 Mb deletion including IL1RAPL1, DAX1, GK and last 22 exons DMD - - - Germline/De novo (untested) - - - 0 X-inactivation CpG island 5' CAG repeat AR gene muscle 50:50, blood 63:37 Johan den Dunnen
Legend   How to query