All transcript variants in gene NOS3

Information The variants shown are described using the NM_000603.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. - c.382C>T likely benign r.(?) p.(Arg128Trp) g.150693603C>T - NOS3(NM_000603.4):c.382C>T (p.R128W) - ATG9B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. - c.894T>A - r.(?) p.(Asp298Glu) g.150696111T>A g.150999023T>A - - NOS3_000003 for details see the Uveogene database PubMed: Chung 2003 - rs1799983 Germline - 21/130 cases - 0 - Peizeng Yang
./. - c.894T>A - r.(?) p.(Asp298Glu) g.150696111T>A g.150999023T>A - - NOS3_000003 for details see the Uveogene database PubMed: Doganavsargil 2006 - rs1799983 Germline - 101/264 cases - 0 - Peizeng Yang
./. - c.894T>A - r.(?) p.(Asp298Glu) g.150696111T>A g.150999023T>A - - NOS3_000003 for details see the Uveogene database PubMed: Hamzaoui 2008 - rs1799983 Germline - 145/270 cases - 0 - Peizeng Yang
./. - c.894T>A - r.(?) p.(Asp298Glu) g.150696111T>A g.150999023T>A - - NOS3_000003 for details see the Uveogene database PubMed: Kaabachi 2015 - rs1799983 Germline - 79/200 cases - 0 - Peizeng Yang
./. - c.894T>A - r.(?) p.(Asp298Glu) g.150696111T>A g.150999023T>A - - NOS3_000003 for details see the Uveogene database PubMed: Macchioni 2002 - rs1799983 Germline - 53/146 cases - 0 - Peizeng Yang
-/. - c.1264G>A benign r.(?) p.(Ala422Thr) g.150698349G>A - NOS3(NM_000603.4):c.1264G>A (p.A422T) - ATG9B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1752+1092G>A VUS r.(=) p.(=) g.150700484G>A - NOS3(NM_001160110.1):c.1838G>A (p.(Arg613Gln), p.(=)) - NOS3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1983C>T likely benign r.(?) p.(=) g.150704235C>T - NOS3(NM_000603.4):c.1983C>T (p.C661=) - ATG9B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2025C>T likely benign r.(?) p.(=) g.150704277C>T - NOS3(NM_000603.4):c.2025C>T (p.G675=) - ATG9B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2290C>T VUS r.(?) p.(Arg764Cys) g.150706321C>T - NOS3(NM_000603.4):c.2290C>T (p.(Arg764Cys)) - NOS3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2756C>G VUS r.(?) p.(Pro919Arg) g.150707755C>G - NOS3(NM_000603.4):c.2756C>G (p.P919R) - ATG9B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2838C>T likely benign r.(?) p.(=) g.150707837C>T - NOS3(NM_000603.4):c.2838C>T (p.P946=) - ATG9B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3468C>T likely benign r.(?) p.(=) g.150711113C>T - NOS3(NM_000603.4):c.3468C>T (p.H1156=) - ATG9B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*2514C>G likely benign r.(=) p.(=) g.150713771C>G - ATG9B(NM_173681.5):c.2422+5G>C (p.?) - ATG9B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*3884G>C likely benign r.(=) p.(=) g.150715141G>C - ATG9B(NM_173681.5):c.1873-4C>G (p.?) - ATG9B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*10232C>G VUS r.(=) p.(=) g.150721489C>G - ATG9B(NM_173681.5):c.22G>C (p.(Gly8Arg)) - ATG9B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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