Unique variants in gene NOS3

This gene is part of the Globin Gene Server databases.
Information The variants shown are described using the NM_000603.4 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

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.382C>T r.(?) p.(Arg128Trp) - likely benign g.150693603C>T g.150996515C>T NOS3(NM_000603.4):c.382C>T (p.R128W) - ATG9B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./. 5 - c.894T>A r.(?) p.(Asp298Glu) - VUS g.150696111T>A g.150999023T>A - - NOS3_000006 for details see the Uveogene database, for details see the Uveogene database, 3 more items PubMed: Chung 2003, PubMed: Doganavsargil 2006, PubMed: Hamzaoui 2008, PubMed: Kaabachi 2015, 1 more item - rs1799983 Germline - 21/130 cases, 101/264 cases, 145/270 cases, 79/200 cases, 53/146 cases - - - Peizeng Yang
-/. 1 - c.1264G>A r.(?) p.(Ala422Thr) - benign g.150698349G>A g.151001261G>A NOS3(NM_000603.4):c.1264G>A (p.A422T) - ATG9B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1752+1092G>A r.(=) p.(=) - VUS g.150700484G>A g.151003396G>A NOS3(NM_001160110.1):c.1838G>A (p.(Arg613Gln)) - NOS3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1983C>T r.(?) p.(Cys661=) - likely benign g.150704235C>T g.151007147C>T NOS3(NM_000603.4):c.1983C>T (p.C661=) - ATG9B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2025C>T r.(?) p.(Gly675=) - likely benign g.150704277C>T g.151007189C>T NOS3(NM_000603.4):c.2025C>T (p.G675=) - ATG9B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.2113-408T>C r.(?) p.(=) - VUS g.150705610T>C g.151008522T>C - - NOS3_000001 - PubMed: Sebastiani 2008 - rs1008140 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
?/. 1 - c.2290C>T r.(?) p.(Arg764Cys) - VUS g.150706321C>T g.151009233C>T NOS3(NM_000603.4):c.2290C>T (p.(Arg764Cys)) - NOS3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2685+113C>T r.(?) p.(=) - VUS g.150707488C>T g.151010400C>T - - NOS3_000002 - PubMed: Sebastiani 2008 - rs743507 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
?/. 1 - c.2756C>G r.(?) p.(Pro919Arg) - VUS g.150707755C>G g.151010667C>G NOS3(NM_000603.4):c.2756C>G (p.P919R) - ATG9B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2838C>T r.(?) p.(Pro946=) - likely benign g.150707837C>T g.151010749C>T NOS3(NM_000603.4):c.2838C>T (p.P946=) - ATG9B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.2984+228G>T r.(?) p.(=) - VUS g.150708302G>T g.151011214G>T - - NOS3_000003 - PubMed: Sebastiani 2008 - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
-?/. 1 - c.3468C>T r.(?) p.(His1156=) - likely benign g.150711113C>T g.151014025C>T NOS3(NM_000603.4):c.3468C>T (p.H1156=) - ATG9B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*2514C>G r.(=) p.(=) - likely benign g.150713771C>G g.151016683C>G ATG9B(NM_173681.5):c.2422+5G>C (p.?) - ATG9B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3884G>C r.(=) p.(=) - likely benign g.150715141G>C g.151018054G>C ATG9B(NM_173681.5):c.1873-4C>G (p.?) - ATG9B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*10232C>G r.(=) p.(=) - VUS g.150721489C>G g.151024402C>G ATG9B(NM_173681.5):c.22G>C (p.(Gly8Arg)) - ATG9B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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