Full data view for gene NOX1

Information The variants shown are described using the NM_007052.4 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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     
?/. - c.46-348A>G r.(=) p.(=) Maternal (inferred) - VUS g.100126151T>C g.100871162T>C - - NOX1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.109G>A r.(?) p.(Asp37Asn) Unknown - likely benign g.100125740C>T g.100870751C>T NOX1(NM_007052.4):c.109G>A (p.D37N) - NOX1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.142-191A>G r.(=) p.(=) Maternal (inferred) - VUS g.100118775T>C g.100863786T>C - - NOX1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.142-191A>G r.(=) p.(=) Maternal (inferred) - VUS g.100118775T>C g.100863786T>C - - NOX1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.389G>A r.(?) p.(Arg130Gln) Unknown - likely benign g.100117758C>T - NOX1(NM_007052.4):c.389G>A (p.R130Q) - NOX1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.489G>A r.(?) p.(Thr163=) Unknown - VUS g.100117658C>T g.100862669C>T NOX1(NM_007052.4):c.489G>A (p.T163=, p.(=)) - NOX1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.489G>A r.(?) p.(Thr163=) Unknown - likely benign g.100117658C>T - NOX1(NM_007052.4):c.489G>A (p.T163=, p.(=)) - NOX1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.721C>T r.(?) p.(Arg241Cys) Unknown - VUS g.100117243G>A g.100862254G>A NOX1(NM_007052.4):c.721C>T (p.(Arg241Cys)) - NOX1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.804+128A>G r.(=) p.(=) Maternal (inferred) - VUS g.100117032T>C g.100862043T>C - - NOX1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.804+128A>G r.(=) p.(=) Maternal (inferred) - VUS g.100117032T>C g.100862043T>C - - NOX1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.805-4006dup r.(=) p.(=) Unknown - VUS g.100110321dup g.100855332dup - - NOX1_000032 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.805-3866G>A r.(=) p.(=) Maternal (inferred) - VUS g.100110180C>T g.100855191C>T - - NOX1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.805-3866G>A r.(=) p.(=) Maternal (inferred) - VUS g.100110180C>T g.100855191C>T - - NOX1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.805-3653A>G r.(=) p.(=) Maternal (inferred) - VUS g.100109967T>C g.100854978T>C - - NOX1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.805-3653A>G r.(=) p.(=) Maternal (inferred) - VUS g.100109967T>C g.100854978T>C - - NOX1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.805-3631_805-3630dup r.(=) p.(=) Unknown - VUS g.100109952_100109953dup g.100854963_100854964dup - - NOX1_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.805-3630dup r.(=) p.(=) Maternal (inferred) - VUS g.100109953dup g.100854964dup - - NOX1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.805-3630dup r.(=) p.(=) Unknown - VUS g.100109953dup g.100854964dup - - NOX1_000034 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.805-3630dup r.(=) p.(=) Unknown - VUS g.100109953dup g.100854964dup - - NOX1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.805-3630dup r.(=) p.(=) Unknown - VUS g.100109953dup g.100854964dup - - NOX1_000034 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.805-3604A>T r.(=) p.(=) Maternal (inferred) - VUS g.100109918T>A g.100854929T>A - - NOX1_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.860G>A r.(?) p.(Arg287Gln) Unknown - VUS g.100106259C>T g.100851270C>T NOX1(NM_007052.4):c.860G>A (p.R287Q) - NOX1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.898-43T>C r.(=) p.(=) Maternal (inferred) - VUS g.100105418A>G g.100850429A>G - - NOX1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.898-43T>C r.(=) p.(=) Maternal (inferred) - VUS g.100105418A>G g.100850429A>G - - NOX1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1066C>T r.(?) p.(Arg356Ter) Unknown - likely benign g.100105207G>A g.100850218G>A NOX1(NM_007052.4):c.1066C>T (p.R356*) - NOX1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1067G>A r.(?) p.(Arg356Gln) Unknown - VUS g.100105206C>T g.100850217C>T NOX1(NM_007052.4):c.1067G>A (p.(Arg356Gln)) - NOX1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1078G>A r.(?) p.(Asp360Asn) Unknown - likely benign g.100105195C>T g.100850206C>T NOX1(NM_001271815.1):c.967G>A (p.(Asp323Asn)) - NOX1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1134-85A>G r.(=) p.(=) Maternal (inferred) - VUS g.100105008T>C g.100850019T>C - - NOX1_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1134-85A>G r.(=) p.(=) Maternal (inferred) - VUS g.100105008T>C g.100850019T>C - - NOX1_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1316G>T r.(?) p.(Cys439Phe) Unknown - VUS g.100104396C>A - NOX1(NM_007052.4):c.1316G>T (p.C439F) - NOX1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1357A>G r.(?) p.(Thr453Ala) Unknown - likely benign g.100104355T>C g.100849366T>C NOX1(NM_007052.5):c.1357A>G (p.T453A) - NOX1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1443+187_1443+189dup r.(=) p.(=) Maternal (inferred) - VUS g.100104085_100104087dup g.100849096_100849098dup - - NOX1_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1443+187_1443+189dup r.(=) p.(=) Maternal (inferred) - VUS g.100104085_100104087dup g.100849096_100849098dup - - NOX1_000033 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1443+187_1443+189dup r.(=) p.(=) Maternal (inferred) - VUS g.100104085_100104087dup g.100849096_100849098dup - - NOX1_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1443+187_1443+189dup r.(=) p.(=) Maternal (inferred) - VUS g.100104085_100104087dup g.100849096_100849098dup - - NOX1_000033 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1444-138T>C r.(=) p.(=) Maternal (inferred) - VUS g.100103881A>G g.100848892A>G - - NOX1_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1444-138T>C r.(=) p.(=) Maternal (inferred) - VUS g.100103881A>G g.100848892A>G - - NOX1_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1475C>T r.(?) p.(Ala492Val) Unknown - likely benign g.100103712G>A - NOX1(NM_007052.4):c.1475C>T (p.A492V) - NOX1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*583_*585del r.(=) p.(=) Maternal (inferred) - VUS g.100098358_100098360del g.100843369_100843371del - - NOX1_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*586_*588del r.(=) p.(=) Maternal (inferred) - VUS g.100098355_100098357del g.100843366_100843368del - - NOX1_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*586_*588del r.(=) p.(=) Maternal (inferred) - VUS g.100098355_100098357del g.100843366_100843368del - - NOX1_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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