### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHRNA3) # 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}}" "CHRNA3" "cholinergic receptor, nicotinic, alpha 3 (neuronal)" "15" "q24" "unknown" "NG_016143.1" "UD_132084494784" "" "https://www.LOVD.nl/CHRNA3" "" "1" "1957" "1136" "118503" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-07 17:57:12" "00000" "2025-05-05 21:14:00" ## 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}}" "00005142" "CHRNA3" "cholinergic receptor, nicotinic, alpha 3, transcript variant 1" "002" "NM_000743.4" "" "NP_000734.2" "" "" "" "-501" "2817" "1518" "78913637" "78887647" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "03083" "SQTL3" "smoking, quantitative trait locus 3 (SQTL-3)" "" "612052" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05259" "SQTL" "smoking, quantitative trait locus (SQTL)" "" "" "" "" "" "00006" "2017-04-04 22:04:59" "" "" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "06255" "BAIPRCK" "Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT" "AR" "191800" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CHRNA3" "03083" "CHRNA3" "05259" "CHRNA3" "05342" "CHRNA3" "06255" ## 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}}" "00000067" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00269855" "" "" "" "1" "" "00006" "{PMID:Mann 2019:31708116}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Macedonia" "" "0" "" "" "" "B1402" "00269856" "" "" "" "2" "" "00006" "{PMID:Mann 2019:31708116}" "2-generation family, 2 affected (2M), unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Arab" "B1717-21" "00269857" "" "" "00269856" "1" "" "00006" "{PMID:Mann 2019:31708116}" "" "M" "yes" "" "" "0" "" "" "Arab" "B1717-22" "00269858" "" "" "" "2" "" "00006" "{PMID:Mann 2019:31708116}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "GM-21" "00269859" "" "" "00269858" "1" "" "00006" "{PMID:Mann 2019:31708116}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "GM-22" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00269855" "05342" "00269856" "05342" "00269857" "05342" "00269858" "00139" "00269858" "05342" "00269859" "05342" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 03083, 05259, 05342, 06255 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000207648" "05342" "00269855" "00006" "Familial, autosomal recessive" "" "bilateral vesicoureteral reflux, grade IV recurrent vesicoureteral reflux, post ureteral reimplantation, chronic kidney disease (stage 2); no dysautonomic manifestations" "" "" "" "" "" "" "" "" "CAKUT" "0000207649" "05342" "00269856" "00006" "Familial, autosomal recessive" "" "non-neurogenic, neurogenic bladder, bilateral vesicoureteral reflux, grade V bilateral hydronephrosis, atrophic left kidney, chronic kidney disease (stage 2), impaired pupillary light reflex, orthostatic hypotension" "" "" "" "" "" "" "" "" "CAKUT" "0000207650" "05342" "00269857" "00006" "Familial, autosomal recessive" "" "recurrent urinary tract infections, impaired pupillary light reflex" "" "" "" "" "" "" "" "" "CAKUT" "0000207651" "05342" "00269858" "00006" "Familial, autosomal recessive" "" "non-neurogenic, neurogenic bladder, left hydronephrosis, right cystic kidney, hypospadias, impaired pupillary light reflex, flat cardiotocography tracing in utero" "" "" "" "" "" "" "" "" "CAKUT" "0000207652" "05342" "00269859" "00006" "Familial, autosomal recessive" "" "voiding dysfunction recurrent urinary tract infections, , impaired pupillary light reflex, flat cardiotocography tracing in utero, gastresophageal reflux, failure to thrive" "" "" "" "" "" "" "" "" "CAKUT" "0000207653" "00139" "00269858" "00006" "Unknown" "" "hypertelorism, broad nasal root, intellectual disability" "" "" "" "" "" "" "" "" "intellectual disability" ## 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}}" "0000000067" "00000067" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000271007" "00269855" "1" "00006" "00006" "2019-12-07 18:05:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000271008" "00269856" "1" "00006" "00006" "2019-12-07 18:05:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000271009" "00269857" "1" "00006" "00006" "2019-12-07 18:05:38" "" "" "SEQ" "DNA" "" "" "0000271010" "00269858" "1" "00006" "00006" "2019-12-07 18:05:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000271011" "00269859" "1" "00006" "00006" "2019-12-07 18:05:38" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000000067" "ASPA" "0000000067" "ATP7B" "0000000067" "CDH23" "0000000067" "CPT1A" "0000000067" "CYP21A2" "0000000067" "ETFB" "0000000067" "GALC" "0000000067" "GLB1" "0000000067" "MEFV" "0000000067" "MTHFR" "0000000067" "MVK" "0000000067" "NHLRC1" "0000000067" "NPHS1" "0000000067" "SERPINA1" "0000000067" "SLC26A2" "0000000067" "SMPD1" "0000000067" "WNT10A" "0000271007" "CHRNA3" "0000271008" "CHRNA3" "0000271009" "CHRNA3" "0000271010" "CHRNA3" "0000271011" "CHRNA3" ## 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 = 21 "{{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}}" "0000000106" "0" "50" "1" "11850927" "11850927" "subst" "0.055472" "00002" "MTHFR_000001" "g.11850927C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11790870C>T" "" "pathogenic (recessive)" "" "0000555572" "0" "50" "15" "78893831" "78893831" "subst" "2.84477E-5" "02327" "CHRNA3_000002" "g.78893831G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78601489G>A" "" "VUS" "" "0000624845" "3" "90" "15" "78910957" "78910957" "subst" "4.06141E-6" "00006" "CHRNA3_000008" "g.78910957A>C" "" "{PMID:Mann 2019:31708116}" "" "" "" "Germline" "" "" "0" "" "" "g.78618615A>C" "" "pathogenic (recessive)" "" "0000624846" "3" "90" "15" "78893980" "78893981" "del" "0" "00006" "CHRNA3_000007" "g.78893980_78893981del" "" "{PMID:Mann 2019:31708116}" "" "1010_1011delCA" "" "Germline" "yes" "" "0" "" "" "g.78601638_78601639del" "" "pathogenic (recessive)" "" "0000624847" "3" "90" "15" "78893980" "78893981" "del" "0" "00006" "CHRNA3_000007" "g.78893980_78893981del" "" "{PMID:Mann 2019:31708116}" "" "1011_1011delCA" "" "Germline" "yes" "" "0" "" "" "g.78601638_78601639del" "" "pathogenic (recessive)" "" "0000624848" "3" "90" "15" "78893965" "78893965" "subst" "1.62595E-5" "00006" "CHRNA3_000006" "g.78893965G>C" "" "{PMID:Mann 2019:31708116}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78601623G>C" "" "pathogenic (recessive)" "" "0000624849" "3" "90" "15" "78893965" "78893965" "subst" "1.62595E-5" "00006" "CHRNA3_000006" "g.78893965G>C" "" "{PMID:Mann 2019:31708116}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78601623G>C" "" "pathogenic (recessive)" "" "0000680301" "0" "30" "15" "78882331" "78882331" "subst" "0.000292576" "01943" "CHRNA3_000009" "g.78882331A>G" "" "" "" "CHRNA5(NM_000745.3):c.598A>G (p.I200V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680302" "0" "50" "15" "78894335" "78894335" "subst" "0.00056868" "01943" "CHRNA3_000010" "g.78894335G>A" "" "" "" "CHRNA3(NM_000743.5):c.649C>T (p.H217Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892294" "0" "30" "15" "78911017" "78911017" "subst" "0.000418315" "02326" "CHRNA3_000011" "g.78911017T>C" "" "" "" "CHRNA3(NM_000743.5):c.223-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892295" "0" "30" "15" "78913087" "78913089" "dup" "0" "02326" "CHRNA3_000012" "g.78913087_78913089dup" "" "" "" "CHRNA3(NM_000743.5):c.67_69dupCTG (p.L23dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914374" "0" "10" "15" "78893787" "78893787" "subst" "0.00364424" "02326" "CHRNA3_000013" "g.78893787G>A" "" "" "" "CHRNA3(NM_000743.5):c.1197C>T (p.D399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967967" "0" "30" "15" "78913084" "78913089" "del" "0" "02326" "CHRNA3_000004" "g.78913084_78913089del" "" "" "" "CHRNA3(NM_000743.5):c.64_69delCTGCTG (p.L22_L23del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981437" "0" "70" "15" "78894142" "78894143" "del" "0" "01804" "CHRNA3_000014" "g.78894142_78894143del" "" "" "" "CHRNA3(NM_000743.5):c.844_845del (p.(Ser282Profs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981438" "0" "50" "15" "78913084" "78913089" "dup" "0" "01804" "CHRNA3_000015" "g.78913084_78913089dup" "" "" "" "CHRNA3(NM_000743.5):c.64_69dup (p.(Leu22_Leu23dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001694" "0" "50" "15" "78894269" "78894269" "subst" "8.15029E-6" "01804" "CHRNA3_000016" "g.78894269G>A" "" "" "" "CHRNA3(NM_000743.4):c.715C>T (p.(Arg239Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040606" "0" "50" "15" "78893821" "78893821" "subst" "0.000459193" "01804" "CHRNA3_000017" "g.78893821G>A" "" "" "" "CHRNA3(NM_000743.5):c.1163C>T (p.(Ser388Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040607" "0" "50" "15" "78894025" "78894025" "subst" "0" "01804" "CHRNA3_000018" "g.78894025A>G" "" "" "" "CHRNA3(NM_000743.5):c.959T>C (p.(Val320Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040608" "0" "50" "15" "78894357" "78894357" "subst" "8.12499E-6" "01804" "CHRNA3_000019" "g.78894357G>C" "" "" "" "CHRNA3(NM_000743.5):c.627C>G (p.(Ile209Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040609" "0" "50" "15" "78894406" "78894406" "subst" "0" "01804" "CHRNA3_000020" "g.78894406C>T" "" "" "" "CHRNA3(NM_000743.5):c.578G>A (p.(Gly193Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040610" "0" "50" "15" "78909414" "78909414" "subst" "0.000239876" "01804" "CHRNA3_000021" "g.78909414C>T" "" "" "" "CHRNA3(NM_000743.5):c.329G>A (p.(Arg110His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 CHRNA3 ## Count = 21 "{{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}}" "0000000106" "00005142" "90" "1100" "0" "1100" "0" "NM_018002.3:c.1100C>G" "r.(?)" "p.(Ser367*)" "" "0000555572" "00005142" "50" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385Cys)" "" "0000624845" "00005142" "90" "267" "2" "267" "2" "c.267+2T>G" "r.spl" "p.?" "" "0000624846" "00005142" "90" "1010" "0" "1011" "0" "c.1010_1011del" "r.(?)" "p.(Thr337Asnfs*81)" "" "0000624847" "00005142" "90" "1010" "0" "1011" "0" "c.1010_1011del" "r.spl" "p.(Thr337Asnfs*81)" "" "0000624848" "00005142" "90" "1019" "0" "1019" "0" "c.1019C>G" "r.spl" "p.(Ser340*)" "" "0000624849" "00005142" "90" "1019" "0" "1019" "0" "c.1019C>G" "r.spl" "p.(Ser340*)" "" "0000680301" "00005142" "30" "8133" "0" "8133" "0" "c.*6615T>C" "r.(=)" "p.(=)" "" "0000680302" "00005142" "50" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(His217Tyr)" "" "0000892294" "00005142" "30" "223" "-14" "223" "-14" "c.223-14A>G" "r.(=)" "p.(=)" "" "0000892295" "00005142" "30" "67" "0" "69" "0" "c.67_69dup" "r.(?)" "p.(Leu23dup)" "" "0000914374" "00005142" "10" "1197" "0" "1197" "0" "c.1197C>T" "r.(?)" "p.(Asp399=)" "" "0000967967" "00005142" "30" "64" "0" "69" "0" "c.64_69del" "r.(?)" "p.(Leu22_Leu23del)" "" "0000981437" "00005142" "70" "844" "0" "845" "0" "c.844_845del" "r.(?)" "p.(Ser282Profs*10)" "" "0000981438" "00005142" "50" "64" "0" "69" "0" "c.64_69dup" "r.(?)" "p.(Leu22_Leu23dup)" "" "0001001694" "00005142" "50" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "" "0001040606" "00005142" "50" "1163" "0" "1163" "0" "c.1163C>T" "r.(?)" "p.(Ser388Phe)" "" "0001040607" "00005142" "50" "959" "0" "959" "0" "c.959T>C" "r.(?)" "p.(Val320Ala)" "" "0001040608" "00005142" "50" "627" "0" "627" "0" "c.627C>G" "r.(?)" "p.(Ile209Met)" "" "0001040609" "00005142" "50" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Gly193Asp)" "" "0001040610" "00005142" "50" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000000067" "0000000106" "0000271007" "0000624845" "0000271008" "0000624846" "0000271009" "0000624847" "0000271010" "0000624848" "0000271011" "0000624849"