All variants in the NOS1 gene

This gene is part of the Globin Gene Server databases.
Information The variants shown are described using the NM_000620.4 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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     
-?/. - c.432A>G r.(?) p.(Glu144=) - likely benign g.117768443T>C - NOS1(NM_001204218.1):c.432A>G (p.E144=) - NOS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.721G>A r.(?) p.(Asp241Asn) - VUS g.117768154C>T - NOS1(NM_001204218.1):c.721G>A (p.D241N) - NOS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.725+6610T>C r.(=) p.(=) - VUS g.117761540A>G g.117323735A>G - - NOS1_000006 - PubMed: Sebastiani 2008 - rs1483757 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.853-2109C>T r.(=) p.(=) - VUS g.117730340G>A g.117292535G>A - - NOS1_000002 - PubMed: Patrinos and Grosveld 2008 - rs7977109 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.853-1043G>A r.(=) p.(=) - VUS g.117729274C>T g.117291469C>T - - NOS1_000001 - PubMed: Patrinos and Grosveld 2008 - rs7309163 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
-?/. - c.1181A>C r.(?) p.(Asp394Ala) - likely benign g.117724018T>G g.117286213T>G NOS1(NM_000620.4):c.1181A>C (p.(Asp394Ala)) - NOS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1383-1514G>T r.(=) p.(=) - VUS g.117720185C>A g.117282380C>A - - NOS1_000005 - PubMed: Sebastiani 2008 - rs3825102 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
-?/. - c.1572C>A r.(?) p.(Val524=) - likely benign g.117715856G>T - NOS1(NM_001204218.1):c.1572C>A (p.V524=) - NOS1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2531+161A>C r.(=) p.(=) - VUS g.117696041T>G g.117258236T>G - - NOS1_000004 - PubMed: Sebastiani 2008 - rs2682820 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
-?/. - c.2532-2278C>T r.(=) p.(=) - likely benign g.117693837G>A g.117256032G>A NOS1(NM_001204218.1):c.2537C>T (p.(Pro846Leu)) - NOS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2532-2263T>G r.(=) p.(=) - VUS g.117693822A>C g.117256017A>C NOS1(NM_001204218.1):c.2552T>G (p.F851C) - NOS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2532-2254G>A r.(=) p.(=) - likely benign g.117693813C>T g.117256008C>T NOS1(NM_001204218.1):c.2561G>A (p.(Arg854His)) - NOS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2591G>A r.(?) p.(Gly864Asp) - likely benign g.117691500C>T g.117253695C>T NOS1(NM_000620.4):c.2591G>A (p.(Gly864Asp)) - NOS1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3115G>A r.(?) p.(Gly1039Ser) - VUS g.117672490C>T - NOS1(NM_001204218.1):c.3217G>A (p.G1073S) - NOS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.4057G>A r.(?) p.(Val1353Ile) - VUS g.117657993C>T g.117220188C>T NOS1(NM_001204218.1):c.4159G>A (p.V1387I) - NOS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4289+720G>C r.(=) p.(=) - VUS g.117655131C>G g.117217326C>G - - NOS1_000003 - PubMed: Patrinos and Grosveld 2008 - rs816361 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
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