### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOS1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "NOS1" "nitric oxide synthase 1 (neuronal)" "12" "q14-qter" "unknown" "NG_011991.2" "UD_132118826268" "" "https://www.LOVD.nl/NOS1" "Globin Gene Server databases \r\nHbVar " "1" "7872" "4842" "163731" "1" "1" "1" "1" "This gene is part of the Globin Gene Server databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/NOS1_codingDNA.html" "1" "" "This gene is part of the Globin Gene Server databases." "-1" "" "-1" "00001" "2009-02-18 00:00:00" "00006" "2019-11-01 11:39:17" "00000" "2022-05-09 15:40:45" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014692" "NOS1" "transcript variant 1" "001" "NM_000620.4" "" "NP_000611.1" "" "" "" "-711" "11472" "4305" "117799607" "117645947" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00267114" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267115" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267116" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267117" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267118" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267119" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00267114" "00198" "00267115" "00198" "00267116" "00198" "00267117" "00198" "00267118" "00198" "00267119" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000268243" "00267114" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268244" "00267115" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268245" "00267116" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268246" "00267117" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268247" "00267118" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268248" "00267119" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000268243" "NOS1" "0000268244" "NOS1" "0000268245" "NOS1" "0000268246" "NOS1" "0000268247" "NOS1" "0000268248" "NOS1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 16 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000323126" "0" "30" "12" "117691500" "117691500" "subst" "0.00433864" "01804" "NOS1_000023" "g.117691500C>T" "" "" "" "NOS1(NM_000620.4):c.2591G>A (p.(Gly864Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117253695C>T" "" "likely benign" "" "0000323128" "0" "30" "12" "117724018" "117724018" "subst" "0.0043581" "01804" "NOS1_000025" "g.117724018T>G" "" "" "" "NOS1(NM_000620.4):c.1181A>C (p.(Asp394Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117286213T>G" "" "likely benign" "" "0000546781" "0" "50" "12" "117657993" "117657993" "subst" "0.00095593" "01943" "NOS1_000028" "g.117657993C>T" "" "" "" "NOS1(NM_001204218.1):c.4159G>A (p.V1387I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117220188C>T" "" "VUS" "" "0000546783" "0" "30" "12" "117693813" "117693813" "subst" "0.000496497" "01804" "NOS1_000010" "g.117693813C>T" "" "" "" "NOS1(NM_001204218.1):c.2561G>A (p.(Arg854His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117256008C>T" "" "likely benign" "" "0000546784" "0" "50" "12" "117693822" "117693822" "subst" "0.000492372" "01943" "NOS1_000024" "g.117693822A>C" "" "" "" "NOS1(NM_001204218.1):c.2552T>G (p.F851C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117256017A>C" "" "VUS" "" "0000546785" "0" "30" "12" "117693837" "117693837" "subst" "0.0000152191" "01804" "NOS1_000011" "g.117693837G>A" "" "" "" "NOS1(NM_001204218.1):c.2537C>T (p.(Pro846Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117256032G>A" "" "likely benign" "" "0000600920" "0" "50" "12" "117720185" "117720185" "subst" "0" "03464" "NOS1_000005" "g.117720185C>A" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs3825102" "0" "" "" "g.117282380C>A" "" "VUS" "" "0000600921" "0" "50" "12" "117696041" "117696041" "subst" "0" "03464" "NOS1_000004" "g.117696041T>G" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs2682820" "0" "" "" "g.117258236T>G" "" "VUS" "" "0000600922" "0" "50" "12" "117655131" "117655131" "subst" "0" "03464" "NOS1_000003" "g.117655131C>G" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs816361" "0" "" "" "g.117217326C>G" "" "VUS" "" "0000600923" "0" "50" "12" "117761540" "117761540" "subst" "0" "03464" "NOS1_000006" "g.117761540A>G" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs1483757" "0" "" "" "g.117323735A>G" "" "VUS" "" "0000600924" "0" "50" "12" "117729274" "117729274" "subst" "0" "03464" "NOS1_000001" "g.117729274C>T" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs7309163" "0" "" "" "g.117291469C>T" "" "VUS" "" "0000600925" "0" "50" "12" "117730340" "117730340" "subst" "0" "03464" "NOS1_000002" "g.117730340G>A" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs7977109" "0" "" "" "g.117292535G>A" "" "VUS" "" "0000679412" "0" "30" "12" "117768443" "117768443" "subst" "0.0000082052" "01943" "NOS1_000030" "g.117768443T>C" "" "" "" "NOS1(NM_001204218.1):c.432A>G (p.E144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723867" "0" "50" "12" "117672490" "117672490" "subst" "0" "02329" "NOS1_000022" "g.117672490C>T" "" "" "" "NOS1(NM_001204218.1):c.3217G>A (p.G1073S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723868" "0" "50" "12" "117768154" "117768154" "subst" "0.0019821" "02329" "NOS1_000026" "g.117768154C>T" "" "" "" "NOS1(NM_001204218.1):c.721G>A (p.D241N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853284" "0" "30" "12" "117715856" "117715856" "subst" "0.000113818" "01943" "NOS1_000031" "g.117715856G>T" "" "" "" "NOS1(NM_001204218.1):c.1572C>A (p.V524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NOS1 ## Count = 16 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000323126" "00014692" "30" "2591" "0" "2591" "0" "c.2591G>A" "r.(?)" "p.(Gly864Asp)" "" "0000323128" "00014692" "30" "1181" "0" "1181" "0" "c.1181A>C" "r.(?)" "p.(Asp394Ala)" "" "0000546781" "00014692" "50" "4057" "0" "4057" "0" "c.4057G>A" "r.(?)" "p.(Val1353Ile)" "" "0000546783" "00014692" "30" "2532" "-2254" "2532" "-2254" "c.2532-2254G>A" "r.(=)" "p.(=)" "" "0000546784" "00014692" "50" "2532" "-2263" "2532" "-2263" "c.2532-2263T>G" "r.(=)" "p.(=)" "" "0000546785" "00014692" "30" "2532" "-2278" "2532" "-2278" "c.2532-2278C>T" "r.(=)" "p.(=)" "" "0000600920" "00014692" "50" "1383" "-1514" "1383" "-1514" "c.1383-1514G>T" "r.(=)" "p.(=)" "" "0000600921" "00014692" "50" "2531" "161" "2531" "161" "c.2531+161A>C" "r.(=)" "p.(=)" "" "0000600922" "00014692" "50" "4289" "720" "4289" "720" "c.4289+720G>C" "r.(=)" "p.(=)" "" "0000600923" "00014692" "50" "725" "6610" "725" "6610" "c.725+6610T>C" "r.(=)" "p.(=)" "" "0000600924" "00014692" "50" "853" "-1043" "853" "-1043" "c.853-1043G>A" "r.(=)" "p.(=)" "" "0000600925" "00014692" "50" "853" "-2109" "853" "-2109" "c.853-2109C>T" "r.(=)" "p.(=)" "" "0000679412" "00014692" "30" "432" "0" "432" "0" "c.432A>G" "r.(?)" "p.(Glu144=)" "" "0000723867" "00014692" "50" "3115" "0" "3115" "0" "c.3115G>A" "r.(?)" "p.(Gly1039Ser)" "" "0000723868" "00014692" "50" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Asp241Asn)" "" "0000853284" "00014692" "30" "1572" "0" "1572" "0" "c.1572C>A" "r.(?)" "p.(Val524=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000268243" "0000600920" "0000268244" "0000600921" "0000268245" "0000600922" "0000268246" "0000600923" "0000268247" "0000600924" "0000268248" "0000600925"