### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SOD2) # 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}}" "SOD2" "superoxide dismutase 2, mitochondrial" "6" "q25" "unknown" "NG_008729.3" "UD_132085321812" "" "https://www.LOVD.nl/SOD2" "" "1" "11180" "6648" "147460" "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/SOD2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-23 14:03:04" "00006" "2023-11-01 20:47:12" ## 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}}" "00020012" "SOD2" "transcript variant 1" "003" "NM_000636.2" "" "NP_000627.2" "" "" "" "-154" "1439" "669" "160114353" "160102755" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "03167" "MVCD6" "microvascular complications of diabetes 6 (MVCD-6)" "" "612634" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SOD2" "03167" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00180570" "" "" "" "11" "" "02555" "{PMID:Sakamoto 2007:17296902}" "Japanese cohort" "F;M" "" "Japan" "" "0" "{DB:Uveo3119?snp=rs4880&t=1535337071}" "" "Japanese" "" "00273463" "" "" "" "1" "" "00006" "{PMID:Almomani 2020:31494578}" "" "F" "" "" "00y00m04d" "0" "" "" "" "PatX1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00180570" "05467" "00273463" "00352" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00352, 03167, 05467 ## Count = 2 "{{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}}" "0000142965" "05467" "00180570" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000208437" "00352" "00273463" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181507" "00180570" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000274620" "00273463" "1" "00006" "00006" "2019-12-23 14:09:57" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000181507" "SOD2" "0000274620" "SOD2" ## 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 = 8 "{{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}}" "0000249541" "0" "30" "6" "160106080" "160106080" "del" "0" "02325" "SOD2_000002" "g.160106080del" "" "" "" "SOD2(NM_000636.4):c.344-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.159685048del" "" "likely benign" "" "0000298431" "0" "30" "6" "160113703" "160113703" "subst" "0.000395628" "02325" "SOD2_000003" "g.160113703C>T" "" "" "" "SOD2(NM_000636.4):c.216G>A (p.A72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.159692671C>T" "" "likely benign" "" "0000298432" "0" "30" "6" "160114157" "160114157" "subst" "0.000984658" "02325" "SOD2_000004" "g.160114157C>G" "" "" "" "SOD2(NM_000636.4):c.23+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.159693125C>G" "" "likely benign" "" "0000302382" "0" "10" "6" "160106070" "160106070" "subst" "0" "02326" "SOD2_000001" "g.160106070T>A" "" "" "" "SOD2(NM_000636.4):c.344-5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.159685038T>A" "" "benign" "" "0000405203" "0" "50" "6" "160113872" "160113872" "subst" "0.485431" "02555" "SOD2_000005" "g.160113872A>G" "11/156 cases" "{PMID:Sakamoto 2007:17296902}" "" "" "{DB:Uveo3119?snp=rs4880&t=1535337071}" "Germline" "" "rs4880" "0" "" "" "g.159692840A>G" "" "VUS" "" "0000527806" "0" "70" "6" "160103652" "160103652" "subst" "4.10102E-6" "02325" "ACAT2_000004" "g.160103652C>A" "" "" "" "SOD2(NM_000636.4):c.542G>T (p.G181V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.159682620C>A" "" "likely pathogenic" "" "0000527807" "0" "30" "6" "160148741" "160148741" "subst" "0" "01804" "ACAT2_000005" "g.160148741C>T" "" "" "" "WTAP(NM_001270531.1):c.-9+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.159727709C>T" "" "likely benign" "" "0000628580" "3" "70" "6" "160103652" "160103652" "subst" "4.10102E-6" "00006" "ACAT2_000004" "g.160103652C>A" "" "{PMID:Almomani 2020:31494578}" "" "" "" "Germline" "" "" "0" "" "" "g.159682620C>A" "" "pathogenic (recessive)" "" ## 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 SOD2 ## Count = 8 "{{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}}" "0000249541" "00020012" "30" "344" "-6" "344" "-6" "c.344-6del" "r.(=)" "p.(=)" "" "0000298431" "00020012" "30" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Ala72=)" "" "0000298432" "00020012" "30" "23" "20" "23" "20" "c.23+20G>C" "r.(=)" "p.(=)" "" "0000302382" "00020012" "10" "344" "-5" "344" "-5" "c.344-5A>T" "r.spl?" "p.?" "" "0000405203" "00020012" "00" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Val16Ala)" "" "0000527806" "00020012" "70" "542" "0" "542" "0" "c.542G>T" "r.(?)" "p.(Gly181Val)" "" "0000527807" "00020012" "30" "-34542" "0" "-34542" "0" "c.-34542G>A" "r.(?)" "p.(=)" "" "0000628580" "00020012" "70" "542" "0" "542" "0" "c.542G>T" "r.542g>u" "p.Gly181Val" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000181507" "0000405203" "0000274620" "0000628580"