### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OSBPL1A) # 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}}" "OSBPL1A" "oxysterol binding protein-like 1A" "18" "q11.2" "unknown" "NG_029432.1" "UD_132368894357" "" "http://www.LOVD.nl/OSBPL1A" "" "1" "16398" "114876" "606730" "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/OSBPL1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-25 04:21:04" "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}}" "00015476" "OSBPL1A" "transcript variant 2" "001" "NM_080597.3" "" "NP_542164.2" "" "" "" "-217" "3987" "2853" "21977833" "21742009" "" "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}}" "00174" "FH" "hypercholesterolemia, familial (FH)" "AD" "" "" "" "" "00006" "2013-08-11 14:06:36" "00006" "2020-02-26 12:49:47" "05125" "HDLCD" "HDL cholesterol deficiency (HDLCD)" "" "" "" "" "" "00006" "2016-01-26 00:21:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00057888" "" "" "" "1" "" "01181" "" "" "M" "-" "Namibia" "" "0" "" "" "" "" "00267047" "" "" "" "1" "" "03462" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "2-generation family, 2 homozygous affected sisters (I1, I3), heterozygous carrier parents" "F" "" "Mexico" "02y" "0" "" "" "Hispanic" "Fam2PatI1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00057888" "05125" "00267047" "00174" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00174, 05125 ## 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}}" "0000044567" "05125" "00057888" "01181" "Familial, autosomal dominant" "" "HDL-C levels below 90th percentile for age and gender" "" "" "" "" "" "" "" "" "" "0000204977" "00174" "00267047" "03462" "Familial, autosomal dominant" "02y" "LDL 672mg/dl" "" "" "HP:0003124" "" "" "" "" "Homozygous familial hypercholesterolemia" "Homozygous familial hypercholesterolemia" ## 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}}" "0000057849" "00057888" "1" "01181" "01181" "2016-01-24 14:01:35" "00006" "2016-01-25 04:26:00" "PCR;RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000268176" "00267047" "1" "03462" "03462" "2019-11-01 04:28:25" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000057849" "OSBPL1A" "0000268176" "LDLR" ## 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 = 4 "{{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}}" "0000088166" "11" "90" "18" "21957386" "21957389" "dup" "0" "01181" "OSBPL1A_000001" "g.21957386_21957389dup" "" "" "" "" "RNA expression strongly reduced, phenotype probably caused by haploinsufficiency" "Germline" "" "" "0" "" "" "g.24377422_24377425dup" "" "pathogenic" "" "0000601046" "21" "70" "18" "21957386" "21957389" "dup" "0" "03462" "OSBPL1A_000001" "g.21957386_21957389dup" "" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "" "115_116insAATT" "" "Germline" "" "" "0" "" "" "g.24377422_24377425dup" "" "VUS" "" "0000808411" "0" "30" "18" "21761220" "21761220" "subst" "2.43871E-5" "01943" "OSBPL1A_000002" "g.21761220T>C" "" "" "" "OSBPL1A(NM_080597.3):c.1701A>G (p.P567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808412" "0" "30" "18" "21913016" "21913016" "subst" "5.27957E-5" "01943" "OSBPL1A_000003" "g.21913016G>A" "" "" "" "OSBPL1A(NM_080597.3):c.515C>T (p.S172L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 OSBPL1A ## Count = 4 "{{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}}" "0000088166" "00015476" "70" "112" "0" "115" "0" "c.112_115dup" "r.112_115dup" "p.Cys39*" "2" "0000601046" "00015476" "70" "112" "0" "115" "0" "c.112_115dup" "r.(?)" "p.(Cys39*)" "" "0000808411" "00015476" "30" "1701" "0" "1701" "0" "c.1701A>G" "r.(?)" "p.(Pro567=)" "" "0000808412" "00015476" "30" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Ser172Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000057849" "0000088166" "0000268176" "0000601046"