### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SGCZ) # 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}}" "SGCZ" "sarcoglycan, zeta" "8" "p22" "unknown" "LRG_208" "UD_131246924193" "" "https://www.LOVD.nl/SGCZ" "" "1" "14075" "137868" "608113" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/SGCZ_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2007-06-05 00:00:00" "00006" "2017-11-17 10:52:34" "00006" "2024-10-31 21:38:58" ## 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}}" "00018803" "SGCZ" "sarcoglycan, zeta" "001" "NM_139167.2" "" "NP_631906.2" "" "" "" "-660" "1518" "939" "15095792" "13947373" "" "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}}" "02247" "MPS2" "mucopolysaccharidosis, type II (MPS-2, Hunter syndrome)" "XLR" "309900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00133001" "" "" "" "1" "" "00416" "" "" "" "" "Germany" "" "0" "" "" "" "?" "00133029" "" "" "" "1" "" "00416" "" "" "" "" "Germany" "" "0" "" "" "" "?" "00133058" "" "" "" "1" "" "00416" "" "" "" "" "Germany" "" "0" "" "" "" "?" "00133132" "" "" "" "1" "" "00416" "" "" "" "" "Germany" "" "0" "" "" "" "?" "00457145" "" "" "" "1" "" "00006" "{PMID:Jezela-Stanek 2021:33290290}" "" "M" "" "Poland" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00133001" "05126" "00133029" "05126" "00133058" "05126" "00133132" "05126" "00457145" "02247" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02247, 05126 ## Count = 5 "{{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}}" "0000105762" "05126" "00133001" "00416" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, limb-girdle (LGMD)" "0000105790" "05126" "00133029" "00416" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, limb-girdle (LGMD)" "0000105819" "05126" "00133058" "00416" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, limb-girdle (LGMD)" "0000105893" "05126" "00133132" "00416" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, limb-girdle (LGMD)" "0000345644" "02247" "00457145" "00006" "Familial, X-linked recessive" "" "see paper ...(detailed)" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133835" "00133001" "1" "00416" "00006" "2008-02-24 14:13:35" "" "" "SEQ" "DNA" "" "" "0000133863" "00133029" "1" "00416" "00006" "2008-02-24 14:13:35" "" "" "SEQ" "DNA" "" "" "0000133892" "00133058" "1" "00416" "00006" "2008-02-24 14:13:35" "" "" "SEQ" "DNA" "" "" "0000133966" "00133132" "1" "00416" "00006" "2008-02-24 14:13:35" "" "" "SEQ" "DNA" "" "" "0000458763" "00457145" "1" "00006" "00006" "2024-10-31 21:30:41" "" "" "arrayCGH;MAPH" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000133835" "SGCA" "0000133835" "SGCB" "0000133835" "SGCD" "0000133835" "SGCG" "0000133835" "SGCZ" "0000133863" "SGCA" "0000133863" "SGCB" "0000133863" "SGCD" "0000133863" "SGCG" "0000133863" "SGCZ" "0000133892" "SGCA" "0000133892" "SGCB" "0000133892" "SGCD" "0000133892" "SGCG" "0000133892" "SGCZ" "0000133966" "SGCA" "0000133966" "SGCB" "0000133966" "SGCD" "0000133966" "SGCG" "0000133966" "SGCZ" "0000458763" "IDS" ## 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 = 17 "{{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}}" "0000223353" "0" "30" "8" "13947941" "13947941" "subst" "0.0138394" "00006" "SGCZ_000014" "g.13947941A>T" "" "" "" "" "" "Germline" "" "rs73213896" "0" "" "" "g.14090432A>T" "" "likely benign" "" "0000223354" "1" "50" "8" "15095296" "15095296" "subst" "0" "00006" "SGCZ_000001" "g.15095296A>G" "" "" "" "" "" "Germline" "" "rs11782187" "0" "" "" "g.15237787A>G" "" "VUS" "" "0000223355" "1" "50" "8" "15095332" "15095332" "subst" "0" "00006" "SGCZ_000002" "g.15095332A>G" "" "" "" "" "" "Germline" "" "rs11782191" "0" "" "" "g.15237823A>G" "" "VUS" "" "0000223356" "1" "50" "8" "14181585" "14181585" "subst" "0.000951416" "00006" "SGCZ_000003" "g.14181585G>C" "" "" "" "" "" "Germline" "" "rs13269000" "0" "" "" "g.14324076G>C" "" "VUS" "" "0000223357" "1" "50" "8" "14095199" "14095199" "subst" "0.263992" "00006" "SGCZ_000004" "g.14095199T>C" "0.26" "" "" "" "" "Germline" "" "rs28658359" "0" "" "" "g.14237690T>C" "" "VUS" "" "0000223358" "1" "50" "8" "13965718" "13965718" "subst" "0" "00006" "SGCZ_000005" "g.13965718A>G" "" "" "" "" "" "Germline" "" "rs13280248" "0" "" "" "g.14108209A>G" "" "VUS" "" "0000223359" "1" "50" "8" "13965719" "13965719" "subst" "0" "00006" "SGCZ_000006" "g.13965719G>A" "" "" "" "" "" "Germline" "" "rs13277240" "0" "" "" "g.14108210G>A" "" "VUS" "" "0000223360" "1" "50" "8" "13948026" "13948026" "subst" "0" "00006" "SGCZ_000007" "g.13948026C>T" "0.01" "" "" "" "" "Germline" "" "rs34594293" "0" "" "" "g.14090517C>T" "" "VUS" "" "0000223361" "1" "50" "8" "13947515" "13947515" "subst" "0" "00006" "SGCZ_000008" "g.13947515A>G" "0.03" "" "" "" "" "Germline" "" "rs17118615" "0" "" "" "g.14090006A>G" "" "VUS" "" "0000223362" "1" "50" "8" "13947980" "13947980" "dup" "0" "00006" "SGCZ_000009" "g.13947980dup" "" "" "" "" "" "Germline" "" "rs35986355" "0" "" "" "g.14090471dup" "" "VUS" "" "0000223714" "1" "50" "8" "14181585" "14181585" "subst" "0.000951416" "00416" "SGCZ_000003" "g.14181585G>C" "" "" "" "" "" "Germline" "" "rs13269000" "0" "" "" "g.14324076G>C" "" "VUS" "" "0000223715" "0" "50" "8" "14095199" "14095199" "subst" "0.263992" "00416" "SGCZ_000004" "g.14095199T>C" "" "" "" "" "" "Germline" "" "rs28658359" "0" "" "" "g.14237690T>C" "" "VUS" "" "0000223716" "1" "50" "8" "13947940" "13947940" "subst" "0" "00416" "SGCZ_000010" "g.13947940A>T" "" "" "" "911T>A" "" "Germline" "" "" "0" "" "" "g.14090431A>T" "" "VUS" "" "0000223717" "2" "50" "8" "14095069" "14095069" "subst" "0" "00416" "SGCZ_000011" "g.14095069A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.14237560A>G" "" "VUS" "" "0000223718" "1" "50" "8" "13965721" "13965721" "subst" "0" "00416" "SGCZ_000012" "g.13965721G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.14108212G>A" "" "VUS" "" "0000223719" "0" "50" "8" "13948098" "13948098" "subst" "0" "00416" "SGCZ_000013" "g.13948098A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.14090589A>G" "" "VUS" "" "0001016328" "0" "50" "8" "13468298" "14572671" "dup" "0" "00006" "SGCZ_000015" "g.(?_13468298)_(14572671_?)dup" "" "{PMID:Jezela-Stanek 2021:33290290}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "hg19 8p22(13468298_14572671)×3" "g.(?_13610789)_(14715162_?)dup" "" "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 SGCZ ## Count = 17 "{{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}}" "0000223353" "00018803" "30" "950" "0" "950" "0" "c.*11T>A" "r.(?)" "p.(=)" "8" "0000223354" "00018803" "50" "-164" "0" "-164" "0" "c.-164T>C" "r.(?)" "p.(=)" "1" "0000223355" "00018803" "50" "-200" "0" "-200" "0" "c.-200T>C" "r.(?)" "p.(=)" "1" "0000223356" "00018803" "50" "336" "27" "336" "27" "c.336+27C>G" "r.(?)" "p.(=)" "3i" "0000223357" "00018803" "50" "337" "-11" "337" "-11" "c.337-11A>G" "r.(?)" "p.(=)" "3i" "0000223358" "00018803" "50" "574" "0" "574" "0" "c.574T>C" "r.(?)" "p.(Ser192Pro)" "6" "0000223359" "00018803" "50" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(=)" "6" "0000223360" "00018803" "50" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Gly298Ser)" "8" "0000223361" "00018803" "50" "1376" "0" "1376" "0" "c.*437T>C" "r.(?)" "p.(=)" "8" "0000223362" "00018803" "50" "912" "0" "912" "0" "c.912dup" "r.(?)" "p.(Ser305Glnfs*2)" "8" "0000223714" "00018803" "50" "336" "27" "336" "27" "c.336+27C>G" "r.(?)" "p.(=)" "3i" "0000223715" "00018803" "50" "337" "-11" "337" "-11" "c.337-11A>G" "r.(?)" "p.(=)" "3i" "0000223716" "00018803" "50" "951" "0" "951" "0" "c.*12T>A" "r.(?)" "p.(=)" "8" "0000223717" "00018803" "50" "424" "32" "424" "32" "c.424+32T>C" "r.(?)" "p.(=)" "4i" "0000223718" "00018803" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(His191Tyr)" "6" "0000223719" "00018803" "50" "793" "0" "793" "0" "c.793T>C" "r.(?)" "p.(Ser265Pro)" "8" "0001016328" "00018803" "50" "40" "-160236" "480593" "0" "c.(39+1_40-160236)_(*479654_?)dup" "r.?" "p.?" "2i_8_" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000133835" "0000223714" "0000133835" "0000223717" "0000133863" "0000223715" "0000133863" "0000223719" "0000133892" "0000223718" "0000133966" "0000223716" "0000458763" "0001016328"