### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BSG) # 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}}" "BSG" "basigin (Ok blood group)" "19" "p13.3" "unknown" "NG_007468.1" "UD_134408316380" "" "https://www.LOVD.nl/BSG" "" "1" "1116" "682" "109480" "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/BSG_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-27 16:29:50" "00000" "2022-05-09 16:01:56" ## 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}}" "00003513" "BSG" "transcript variant 1" "003" "NM_001728.3" "" "NP_001719.2" "" "" "" "-181" "1907" "1158" "572454" "583493" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01202" "OK" "blood group system, OK" "" "111380" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05323" "MYP" "myopia (MYP)" "" "" "" "" "" "00006" "2017-09-01 15:07:55" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BSG" "01202" ## 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}}" "00292201" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300244" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32215939}" "" "M" "" "Spain" "" "0" "" "" "" "HM241" "00334963" "" "" "" "1" "" "00000" "{PMID:Jin 2017:28373534}" "" "M" "" "China" "" "0" "" "" "" "H13" "00334971" "" "" "" "1" "" "00000" "{PMID:Jin 2017:28373534}" "" "M" "" "China" "" "0" "" "" "" "T100" "00334972" "" "" "" "1" "" "00000" "{PMID:Jin 2017:28373534}" "" "F" "" "China" "" "0" "" "" "" "HM850" "00334973" "" "" "" "1" "" "00000" "{PMID:Jin 2017:28373534}" "" "M" "" "China" "" "0" "" "" "" "M487" "00334974" "" "" "" "3" "" "00000" "{PMID:Jin 2017:28373534}" "2-generation family, 3 affected (F, 2M)" "F;M" "" "China" "" "0" "" "" "" "M813" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00292201" "00198" "00300244" "05323" "00334963" "00198" "00334971" "00198" "00334972" "00198" "00334973" "00198" "00334974" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01202, 05323 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000227546" "05323" "00300244" "00006" "Familial, autosomal dominant" "8y6m" "refraction spherical equivalent OD –9.25, OS –11.25" "2y" "" "" "" "" "" "" "" "" "myopia" "" "0000252710" "00198" "00334963" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" "0000252718" "00198" "00334971" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" "0000252719" "00198" "00334972" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" "0000252720" "00198" "00334973" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" "0000252721" "00198" "00334974" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" ## 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}}" "0000293369" "00292201" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301361" "00300244" "1" "00006" "00006" "2020-04-24 14:46:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000336194" "00334963" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000336202" "00334971" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ" "DNA" "" "" "0000336203" "00334972" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ" "DNA" "" "" "0000336204" "00334973" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ" "DNA" "" "" "0000336205" "00334974" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000301361" "BSG" "0000336194" "BSG" "0000336202" "BSG" "0000336203" "BSG" "0000336204" "BSG" "0000336205" "BSG" ## 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}}" "0000568586" "0" "30" "19" "577793" "577793" "subst" "0.000244387" "01943" "BSG_000001" "g.577793G>A" "" "" "" "BSG(NM_001728.3):c.87G>A (p.P29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.577793G>A" "" "likely benign" "" "0000568589" "0" "10" "19" "579501" "579501" "subst" "0.00633486" "01943" "BSG_000002" "g.579501C>T" "" "" "" "BSG(NM_001728.3):c.417C>T (p.P139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.579501C>T" "" "benign" "" "0000568590" "0" "30" "19" "579637" "579637" "subst" "3.74913E-5" "01943" "BSG_000003" "g.579637G>A" "" "" "" "BSG(NM_001728.3):c.553G>A (p.G185S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.579637G>A" "" "likely benign" "" "0000568591" "0" "30" "19" "580655" "580655" "subst" "0" "01943" "BSG_000004" "g.580655G>C" "" "" "" "BSG(NM_001728.3):c.665G>C (p.R222T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.580655G>C" "" "likely benign" "" "0000650058" "1" "90" "19" "580428" "580428" "subst" "6.15168E-5" "03575" "BSG_000005" "g.580428G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININ19:580428-GA}" "Germline" "" "" "0" "" "" "g.580428G>A" "" "pathogenic" "" "0000664280" "1" "10" "19" "579608" "579608" "subst" "0" "00006" "BSG_000006" "g.579608G>T" "" "{PMID:Liu 2020:32215939}" "" "" "" "Germline" "" "" "0" "" "" "g.579608G>T" "" "benign" "" "0000735345" "0" "70" "19" "581411" "581411" "subst" "8.17381E-6" "00000" "BSG_000010" "g.581411G>A" "" "{PMID:Jin 2017:28373534}" "" "" "" "De novo" "" "" "0" "" "" "g.581411G>A" "" "likely pathogenic" "" "0000735353" "0" "70" "19" "580651" "580651" "subst" "0" "00000" "BSG_000009" "g.580651C>T" "" "{PMID:Jin 2017:28373534}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.580651C>T" "" "likely pathogenic" "" "0000735354" "0" "70" "19" "578122" "578122" "subst" "2.82658E-5" "00000" "BSG_000008" "g.578122G>A" "" "{PMID:Jin 2017:28373534}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.578122G>A" "" "likely pathogenic" "" "0000735355" "0" "70" "19" "577911" "577911" "subst" "0" "00000" "BSG_000007" "g.577911C>T" "" "{PMID:Jin 2017:28373534}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.577911C>T" "" "likely pathogenic" "" "0000735356" "0" "70" "19" "577911" "577911" "subst" "0" "00000" "BSG_000007" "g.577911C>T" "" "{PMID:Jin 2017:28373534}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.577911C>T" "" "likely pathogenic" "" "0000809072" "0" "50" "19" "579506" "579506" "subst" "0.000126728" "01943" "BSG_000011" "g.579506C>T" "" "" "" "BSG(NM_001728.3):c.422C>T (p.T141I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809075" "0" "50" "19" "581411" "581411" "subst" "8.17381E-6" "01943" "BSG_000010" "g.581411G>A" "" "" "" "BSG(NM_001728.3):c.889G>A (p.G297S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855711" "0" "30" "19" "581581" "581581" "subst" "4.72621E-5" "01943" "BSG_000013" "g.581581C>T" "" "" "" "BSG(NM_001728.3):c.1059C>T (p.D353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866277" "0" "50" "19" "578031" "578031" "subst" "9.95396E-5" "01943" "BSG_000012" "g.578031C>T" "" "" "" "BSG(NM_001728.3):c.325C>T (p.R109W)" "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 BSG ## 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}}" "0000568586" "00003513" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Pro29=)" "" "0000568589" "00003513" "10" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Pro139=)" "" "0000568590" "00003513" "30" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Gly185Ser)" "" "0000568591" "00003513" "30" "665" "0" "665" "0" "c.665G>C" "r.(?)" "p.(Arg222Thr)" "" "0000650058" "00003513" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Glu208Lys)" "" "0000664280" "00003513" "10" "524" "0" "524" "0" "c.524G>T" "r.(?)" "p.(Gly175Val)" "" "0000735345" "00003513" "70" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Ser)" "" "0000735353" "00003513" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Pro221Ser)" "" "0000735354" "00003513" "70" "415" "1" "415" "1" "c.415+1G>A" "r.spl" "p.?" "" "0000735355" "00003513" "70" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Gln69*)" "" "0000735356" "00003513" "70" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Gln69*)" "" "0000809072" "00003513" "50" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Ile)" "" "0000809075" "00003513" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Ser)" "" "0000855711" "00003513" "30" "1059" "0" "1059" "0" "c.1059C>T" "r.(?)" "p.(Asp353=)" "" "0000866277" "00003513" "50" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000293369" "0000650058" "0000301361" "0000664280" "0000336194" "0000735345" "0000336202" "0000735353" "0000336203" "0000735354" "0000336204" "0000735355" "0000336205" "0000735356"