### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STOX1) # 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}}" "STOX1" "storkhead box 1" "10" "q22.1" "unknown" "NC_000010.10" "UD_132084422610" "" "https://www.LOVD.nl/STOX1" "" "1" "23508" "219736" "609397" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/STOX1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-04 20:54:24" "00000" "2024-04-19 20:27:30" ## 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}}" "00020494" "STOX1" "transcript variant 1" "002" "NM_152709.4" "" "NP_689922.3" "" "" "" "-87" "3294" "2970" "70587294" "70652816" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02849" "PEE4" "preeclampsia/eclampsia, type 4 (PEE-4)" "" "609404" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "STOX1" "02849" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00440597" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "M" "" "China" "" "0" "" "" "" "FamPatII5" "00440599" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "F" "" "China" "" "0" "" "" "" "FamPatII10" "00440600" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "M" "" "China" "" "0" "" "" "" "FamPatIII1" "00440601" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "F" "" "China" "" "0" "" "" "" "FamPatIII5" "00440602" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "M" "" "China" "" "0" "" "" "" "FamPatIII7" "00440603" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "M" "" "China" "" "0" "" "" "" "FamPatIII9" "00440605" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "F" "" "China" "" "0" "" "" "" "FamPatIV3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00440597" "04214" "00440599" "04214" "00440600" "04214" "00440601" "04214" "00440602" "04214" "00440603" "04214" "00440605" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02849, 04214 ## Count = 7 "{{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}}" "0000330509" "04214" "00440597" "00006" "Familial, autosomal dominant" "18y-60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; posterior cystic cataract; best-corrected visual acuity OD 20/200, best-corrected visual acuity OS 20/200;" "<9y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330511" "04214" "00440599" "00006" "Familial, autosomal dominant" ">60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; secondary cataract; best-corrected visual acuity OD severly abnormal, best-corrected visual acuity OS severly abnormal; blood fat" "<10y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330512" "04214" "00440600" "00006" "Familial, autosomal dominant" "18y-60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; right eye intraocular lens; best-corrected visual acuity OD severly abnormal, best-corrected visual acuity OS severly abnormal;" "<8y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330513" "04214" "00440601" "00006" "Familial, autosomal dominant" "18y-60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; best-corrected visual acuity OD severly abnormal, best-corrected visual acuity OS severly abnormal; blood fat" "<7y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330514" "04214" "00440602" "00006" "Familial, autosomal dominant" "18y-60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; thinning retinal arterioles, bone spicule-type pigment deposits peripheral retina, extensive retinal atrophy central area macula; best-corrected visual acuity OD 20/200, best-corrected visual acuity OS 20/200; blood fat" "12y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330515" "04214" "00440603" "00006" "Familial, autosomal dominant" "18y-60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; best-corrected visual acuity OD severly abnormal, best-corrected visual acuity OS severly abnormal;" "<7y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330517" "04214" "00440605" "00006" "Familial, autosomal dominant" "02y-12y" "night blindness, visual field defects; retinitis pigmentosa; macular dystrophy/macular degeneration; amblyopia, astigmatism; best-corrected visual acuity OD 20/50, best-corrected visual acuity OS 20/50;" "3y" "" "" "" "" "" "" "" "retinitis pigmentosa" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000442082" "00440597" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442084" "00440599" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442085" "00440600" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442086" "00440601" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442087" "00440602" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442088" "00440603" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442090" "00440605" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 15 "{{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}}" "0000248757" "0" "10" "10" "70645376" "70645376" "subst" "0.218991" "02325" "STOX1_000003" "g.70645376A>C" "" "" "" "STOX1(NM_152709.5):c.1824A>C (p.E608D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68885620A>C" "" "benign" "" "0000253701" "0" "10" "10" "70644735" "70644735" "subst" "0.00199811" "01943" "STOX1_000002" "g.70644735A>G" "" "" "" "STOX1(NM_152709.5):c.1183A>G (p.T395A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68884979A>G" "" "benign" "" "0000311594" "0" "10" "10" "70641860" "70641860" "subst" "0.623844" "02325" "STOX1_000001" "g.70641860T>C" "" "" "" "STOX1(NM_152709.5):c.457T>C (p.Y153H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68882104T>C" "" "benign" "" "0000540516" "0" "50" "10" "70645828" "70645828" "subst" "0" "01943" "STOX1_000006" "g.70645828C>G" "" "" "" "STOX1(NM_152709.5):c.2276C>G (p.S759C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68886072C>G" "" "VUS" "" "0000540517" "0" "10" "10" "70646393" "70646393" "subst" "0.0634826" "02325" "STOX1_000007" "g.70646393G>A" "" "" "" "STOX1(NM_152709.5):c.2822+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68886637G>A" "" "benign" "" "0000690749" "0" "10" "10" "70587497" "70587497" "subst" "0.147059" "01943" "STOX1_000005" "g.70587497T>C" "" "" "" "STOX1(NM_152709.5):c.117T>C (p.A39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722889" "0" "30" "10" "70644350" "70644350" "subst" "0" "01943" "STOX1_000008" "g.70644350G>A" "" "" "" "STOX1(NM_152709.5):c.798G>A (p.R266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722890" "0" "30" "10" "70646026" "70646026" "subst" "0.00272509" "01943" "STOX1_000009" "g.70646026A>T" "" "" "" "STOX1(NM_152709.5):c.2474A>T (p.N825I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000940074" "1" "70" "10" "70644264" "70644264" "del" "0" "00006" "STOX1_000010" "g.70644264del" "" "{PMID:Kong 2023:37012052}" "" "" "" "Germline" "no" "" "0" "" "" "g.68884508del" "" "VUS" "" "0000940075" "0" "70" "10" "70644264" "70644264" "del" "0" "00006" "STOX1_000010" "g.70644264del" "" "{PMID:Kong 2023:37012052}" "" "712delA" "" "Germline" "no" "" "0" "" "" "g.68884508del" "" "VUS" "" "0000940076" "0" "70" "10" "70644264" "70644264" "del" "0" "00006" "STOX1_000010" "g.70644264del" "" "{PMID:Kong 2023:37012052}" "" "712delA" "" "Germline" "no" "" "0" "" "" "g.68884508del" "" "VUS" "" "0000940077" "1" "70" "10" "70644264" "70644264" "del" "0" "00006" "STOX1_000010" "g.70644264del" "" "{PMID:Kong 2023:37012052}" "" "712delA" "" "Germline" "no" "" "0" "" "" "g.68884508del" "" "VUS" "" "0000940078" "1" "70" "10" "70644264" "70644264" "del" "0" "00006" "STOX1_000010" "g.70644264del" "" "{PMID:Kong 2023:37012052}" "" "" "" "Germline" "no" "" "0" "" "" "g.68884508del" "" "VUS" "" "0000940079" "0" "70" "10" "70644264" "70644264" "del" "0" "00006" "STOX1_000010" "g.70644264del" "" "{PMID:Kong 2023:37012052}" "" "712delA" "" "Germline" "no" "" "0" "" "" "g.68884508del" "" "VUS" "" "0000940080" "1" "70" "10" "70644264" "70644264" "del" "0" "00006" "STOX1_000010" "g.70644264del" "" "{PMID:Kong 2023:37012052}" "" "712delA" "" "Germline" "no" "" "0" "" "" "g.68884508del" "" "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 STOX1 ## Count = 15 "{{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}}" "0000248757" "00020494" "10" "1824" "0" "1824" "0" "c.1824A>C" "r.(?)" "p.(Glu608Asp)" "" "0000253701" "00020494" "10" "1183" "0" "1183" "0" "c.1183A>G" "r.(?)" "p.(Thr395Ala)" "" "0000311594" "00020494" "10" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Tyr153His)" "" "0000540516" "00020494" "50" "2276" "0" "2276" "0" "c.2276C>G" "r.(?)" "p.(Ser759Cys)" "" "0000540517" "00020494" "10" "2822" "19" "2822" "19" "c.2822+19G>A" "r.(=)" "p.(=)" "" "0000690749" "00020494" "10" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Ala39=)" "" "0000722889" "00020494" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Arg266=)" "" "0000722890" "00020494" "30" "2474" "0" "2474" "0" "c.2474A>T" "r.(?)" "p.(Asn825Ile)" "" "0000940074" "00020494" "70" "712" "0" "712" "0" "c.712del" "r.(?)" "p.(Ile238Tyrfs*27)" "" "0000940075" "00020494" "70" "712" "0" "712" "0" "c.712del" "r.(?)" "p.(Ile238Tyrfs*27)" "" "0000940076" "00020494" "70" "712" "0" "712" "0" "c.712del" "r.(?)" "p.(Ile238Tyrfs*27)" "" "0000940077" "00020494" "70" "712" "0" "712" "0" "c.712del" "r.(?)" "p.(Ile238Tyrfs*27)" "" "0000940078" "00020494" "70" "712" "0" "712" "0" "c.712del" "r.(?)" "p.(Ile238Tyrfs*27)" "" "0000940079" "00020494" "70" "712" "0" "712" "0" "c.712del" "r.(?)" "p.(Ile238Tyrfs*27)" "" "0000940080" "00020494" "70" "712" "0" "712" "0" "c.712del" "r.(?)" "p.(Ile238Tyrfs*27)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000442082" "0000940080" "0000442084" "0000940079" "0000442085" "0000940078" "0000442086" "0000940077" "0000442087" "0000940074" "0000442088" "0000940075" "0000442090" "0000940076"