### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GUCY1A3) # 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}}" "GUCY1A3" "guanylate cyclase 1, soluble, alpha 3" "4" "q31.3-q33" "unknown" "NC_000004.11" "UD_132612496940" "" "http://www.LOVD.nl/GUCY1A3" "" "1" "4685" "2982" "139396" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GUCY1A3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-18 22:20:00" "00000" "2023-07-07 10:10:56" ## 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}}" "00009065" "GUCY1A3" "transcript variant 1" "001" "NM_000856.4" "" "NP_000847.2" "" "" "" "-536" "4191" "2073" "156587862" "156653501" "" "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}}" "00396" "MYMY6" "moyamoya, with achalasia, type 6 (MYMY-6)" "AR" "615750" "" "" "" "00006" "2014-06-03 09:05:36" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GUCY1A3" "00396" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00016849" "" "" "" "2" "" "00705" "{PMID:Hervé 2014:24581742}" "2-generation family, 2 affected borthers, unaffected heterozygous carrier parents, brother of 24581742-Fam1Pat3" "M" "yes" "France" "" "0" "" "The individual was treated efficiently by nicardipine and perindopril for hypertension from the age of 20." "unknown" "" "00016850" "" "" "00016849" "1" "" "00705" "{PMID:Hervé 2014:24581742}" "brother of 24581742-Fam1Pat1" "M" "yes" "France" "" "0" "" "" "unknown" "" "00016851" "" "" "" "2" "" "00705" "{PMID:Hervé 2014:24581742}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents, sister of 24581742-Fam2Pat2" "F" "yes" "France" "" "0" "" "" "unknown" "" "00016852" "" "" "00016851" "1" "" "00705" "{PMID:Hervé 2014:24581742}" "sister of 24581742-Fam2Pat1" "F" "yes" "France" "" "0" "" "gastrostomy nutrition" "unknown" "" "00016853" "" "" "" "5" "" "00705" "{PMID:Hervé 2014:24581742}" "2-generation family, 5 affected sibs (F, 4M), unaffected heterozygous carrier parents/sibs, brother of 24581742-Fam3PatIV9" "M" "yes" "Algeria" "" "0" "" "Heller myotomy" "Algerian" "" "00016854" "" "" "00016853" "1" "" "00705" "{PMID:Hervé 2014:24581742}" "brother of 24581742-Fam3PatIV8" "M" "yes" "Algeria" "" "0" "" "" "Algerian" "" "00016855" "" "" "00016853" "1" "" "00705" "{PMID:Hervé 2014:24581742}" "brother of 24581742-Fam3PatIV8" "M" "yes" "Algeria" "" "0" "" "" "Algerian" "" "00016856" "" "" "00016853" "1" "" "00705" "{PMID:Hervé 2014:24581742}" "brother of 24581742-Fam3PatIV8" "M" "yes" "Algeria" "" "0" "" "" "Algerian" "" "00016857" "" "" "00016853" "1" "" "00705" "{PMID:Hervé 2014:24581742}" "sister of 24581742-Fam3PatIV8" "F" "yes" "Algeria" "?" "0" "" "Heller myotomy" "Algerian" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00016849" "00396" "00016850" "00396" "00016851" "00396" "00016852" "00396" "00016853" "00396" "00016854" "00396" "00016855" "00396" "00016856" "00396" "00016857" "00396" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00396 ## Count = 9 "{{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}}" "0000015251" "00396" "00016849" "00705" "Familial, autosomal recessive" "22y" "0m: Achalasia; 3y: Stroke; Moyamoya or other intracranial angiopathy, Anterior circulation involvement, Posterior circulation involvement, Hypertension, Low platelet number, Platelet-aggregation abnormal" "" "" "" "" "" "" "" "" "" "0000015252" "00396" "00016850" "00705" "Familial, autosomal recessive" "30y" "0m: Achalasia; (Mallignant)Hypertension, Raynaud phenomenon, Abnormal Platelet-aggregation, erectile dysfunction since adolescence" "" "" "" "" "" "" "" "" "" "0000015253" "00396" "00016851" "00705" "Familial, autosomal recessive" "10y" "4m: Achalasia; Hypertension" "" "" "" "" "" "" "" "" "" "0000015254" "00396" "00016852" "00705" "Familial, autosomal recessive" "05y" "0d:regurgitation episodes; 7m: several episodes\r\nof right hemiparesis followed by generalized seizure, severe left hemiplegia, 2 large inffarcts, severe stenosis of both ICA bifurcations associated with moyamoya vessels on the left side; 11m: Achalasia; 3y: intense episode of microvascular dysfunction with cyanosis. These symptoms resolved spontaneously in a few hours; 4,5y:she remained\r\nseverely disabled. She was able to pronounce\r\nonly few words and to stay seated only for a few seconds.; 5y: stage 1 hypertension. Moyamoya or other intracranial angiopathy, Anterior circulation involvement, Posterior circulation involvement, Raynaud phenomenon, Livedo reticularis" "" "" "" "" "" "" "" "" "" "0000015255" "00396" "00016853" "00705" "Familial, autosomal recessive" "09y" "2y:right hemiparesis associated with aphasia; 6y:contralateral hemiparesis; 1y3m: Achalasia; Moyamoya or other intracranial angiopathy, Anterior circulation involvement" "" "" "" "" "" "" "" "" "" "0000015256" "00396" "00016854" "00705" "Familial, autosomal recessive" "08y" "2m: operated for achalasia; 4y7m:two episodes of transient right hemiparesis (left MCA infarct and an\r\nunusual intracranial angiopathy characterized by long arterial stenosis of the left MCA and ACA)" "" "" "" "" "" "" "" "" "" "0000015257" "00396" "00016855" "00705" "Familial, autosomal recessive" "23y" "Achalasia; No extra digestive investigation was realized in F3 IV-2, F3 IV-4, or F3 IV-5 in the absence of neurological symptoms." "" "" "" "" "" "" "" "" "" "0000015258" "00396" "00016856" "00705" "Familial, autosomal recessive" "18y" "Achalasia; No extra digestive investigation was realized in F3 IV-2, F3 IV-4, or F3 IV-5 in the absence of neurological symptoms." "" "" "" "" "" "" "" "" "" "0000015259" "00396" "00016857" "00705" "Familial, autosomal recessive" "03y" "Achalasia; No extra digestive investigation was realized in F3 IV-2, F3 IV-4, or F3 IV-5 in the absence of neurological symptoms." "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016817" "00016849" "1" "00705" "00705" "2014-06-03 13:48:51" "" "" "SEQ" "DNA" "" "" "0000016818" "00016850" "1" "00705" "00705" "2014-06-03 14:02:36" "" "" "SEQ" "DNA" "" "" "0000016819" "00016851" "1" "00705" "00705" "2014-06-03 14:19:21" "" "" "SEQ" "DNA" "" "" "0000016820" "00016852" "1" "00705" "00705" "2014-06-03 14:33:52" "" "" "SEQ" "DNA" "" "" "0000016821" "00016853" "1" "00705" "00705" "2014-06-03 14:41:06" "" "" "SEQ" "DNA" "" "" "0000016822" "00016854" "1" "00705" "00705" "2014-06-03 17:12:56" "" "" "SEQ" "DNA" "" "" "0000016823" "00016855" "1" "00705" "00705" "2014-06-03 18:15:43" "" "" "SEQ" "DNA" "" "" "0000016824" "00016856" "1" "00705" "00705" "2014-06-03 18:22:50" "" "" "SEQ" "DNA" "" "" "0000016825" "00016857" "1" "00705" "00705" "2014-06-03 18:32:41" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000016817" "GUCY1A3" "0000016818" "GUCY1A3" "0000016819" "GUCY1A3" "0000016820" "GUCY1A3" "0000016821" "GUCY1A3" "0000016822" "GUCY1A3" "0000016823" "GUCY1A3" "0000016824" "GUCY1A3" "0000016825" "GUCY1A3" ## 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 = 12 "{{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}}" "0000036717" "3" "90" "4" "156634333" "156634333" "del" "0" "00705" "GUCY1A3_000001" "g.156634333del" "" "{PMID:Hervé 2014:24581742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155713181del" "" "pathogenic" "" "0000036718" "3" "90" "4" "156634333" "156634333" "del" "0" "00705" "GUCY1A3_000001" "g.156634333del" "" "{PMID:Hervé 2014:24581742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155713181del" "" "pathogenic" "" "0000036719" "3" "90" "4" "156632362" "156632362" "subst" "1.22125E-5" "00705" "GUCY1A3_000002" "g.156632362C>T" "" "{PMID:Hervé 2014:24581742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155711210C>T" "" "pathogenic" "" "0000036720" "3" "90" "4" "156632362" "156632362" "subst" "1.22125E-5" "00705" "GUCY1A3_000002" "g.156632362C>T" "" "{PMID:Hervé 2014:24581742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155711210C>T" "" "pathogenic" "" "0000036721" "3" "90" "4" "156632404" "156632404" "subst" "0" "00705" "GUCY1A3_000003" "g.156632404G>A" "" "{PMID:Hervé 2014:24581742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155711252G>A" "" "pathogenic" "" "0000036722" "3" "90" "4" "156632404" "156632404" "subst" "0" "00705" "GUCY1A3_000003" "g.156632404G>A" "" "{PMID:Hervé 2014:24581742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155711252G>A" "" "pathogenic" "" "0000036723" "3" "90" "4" "156632404" "156632404" "subst" "0" "00705" "GUCY1A3_000003" "g.156632404G>A" "" "{PMID:Hervé 2014:24581742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155711252G>A" "" "pathogenic" "" "0000036724" "3" "90" "4" "156632404" "156632404" "subst" "0" "00705" "GUCY1A3_000003" "g.156632404G>A" "" "{PMID:Hervé 2014:24581742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155711252G>A" "" "pathogenic" "" "0000036725" "3" "90" "4" "156632404" "156632404" "subst" "0" "00705" "GUCY1A3_000003" "g.156632404G>A" "" "{PMID:Hervé 2014:24581742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155711252G>A" "" "pathogenic" "" "0000928881" "0" "10" "4" "156617994" "156617994" "subst" "0.25066" "02326" "GUCY1A3_000004" "g.156617994G>A" "" "" "" "GUCY1A1(NM_000856.6):c.-26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928882" "0" "10" "4" "156632391" "156632391" "subst" "0.98711" "02326" "GUCY1A3_000005" "g.156632391A>G" "" "" "" "GUCY1A1(NM_000856.6):c.1074A>G (p.K358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928883" "0" "10" "4" "156643183" "156643183" "subst" "0.362968" "02326" "GUCY1A3_000006" "g.156643183C>A" "" "" "" "GUCY1A1(NM_000856.6):c.1717-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 GUCY1A3 ## Count = 12 "{{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}}" "0000036717" "00009065" "90" "1170" "0" "1170" "0" "c.1170delA" "r.(?)" "p.(Glu391Lysfs*19)" "8" "0000036718" "00009065" "90" "1170" "0" "1170" "0" "c.1170delA" "r.(?)" "p.(Glu391Lysfs*19)" "8" "0000036719" "00009065" "90" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Arg349*)" "7" "0000036720" "00009065" "90" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Arg349*)" "7" "0000036721" "00009065" "90" "1086" "1" "1086" "1" "c.1086+1G>A" "r.spl" "p.?" "7i" "0000036722" "00009065" "90" "1086" "1" "1086" "1" "c.1086+1G>A" "r.spl" "p.?" "7i" "0000036723" "00009065" "90" "1086" "1" "1086" "1" "c.1086+1G>A" "r.spl" "p.?" "7i" "0000036724" "00009065" "90" "1086" "1" "1086" "1" "c.1086+1G>A" "r.spl" "p.?" "7i" "0000036725" "00009065" "90" "1086" "1" "1086" "1" "c.1086+1G>A" "r.spl" "p.?" "7i" "0000928881" "00009065" "10" "-26" "0" "-26" "0" "c.-26G>A" "r.(?)" "p.(=)" "" "0000928882" "00009065" "10" "1074" "0" "1074" "0" "c.1074A>G" "r.(?)" "p.(=)" "" "0000928883" "00009065" "10" "1717" "-7" "1717" "-7" "c.1717-7C>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000016817" "0000036717" "0000016818" "0000036718" "0000016819" "0000036719" "0000016820" "0000036720" "0000016821" "0000036721" "0000016822" "0000036722" "0000016823" "0000036723" "0000016824" "0000036724" "0000016825" "0000036725"