### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SELENBP1) # 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}}" "SELENBP1" "selenium binding protein 1" "1" "q21.3" "unknown" "NC_000001.10" "UD_136061357549" "" "https://www.LOVD.nl/SELENBP1" "" "1" "10719" "8991" "604188" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SELENBP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-18 14:52:55" "00000" "2020-06-05 09:55:41" ## 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}}" "00025259" "SELENBP1" "transcript variant 1" "002" "NM_003944.3" "" "NP_003935.2" "" "" "" "-93" "1660" "1419" "151345210" "151336778" "00006" "2018-03-18 14:53:53" "" "" ## 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" "05406" "halitosis" "halitosis, extraoral" "" "" "" "cabbage-like breath odor, malodor syndrome" "" "00006" "2018-03-18 14:59:53" "" "" "06039" "EHMTO" "Extraoral halitosis due to MTO deficiency" "AR" "618148" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SELENBP1" "05406" "SELENBP1" "06039" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00155231" "" "" "" "2" "" "00006" "{PMID:Pol 2018:29255262}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents, sisterII2" "F" "yes" "Germany" "" "0" "" "" "Turkey" "29255262-FamAPatII2" "00155232" "" "" "" "1" "" "00006" "{PMID:Pol 2018:29255262}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Portugal" "" "0" "" "" "" "29255262-FamB" "00155233" "" "" "" "2" "" "00006" "{PMID:Pol 2018:29255262}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "Netherlands" "" "0" "" "" "" "29255262-FamC" "00155234" "" "" "00155231" "1" "" "00006" "{PMID:Pol 2018:29255262}" "brother" "M" "yes" "Germany" "" "0" "" "" "Turkey" "29255262-FamAPatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00155231" "05406" "00155232" "05406" "00155233" "05406" "00155234" "00198" "00155234" "05406" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05406, 06039 ## Count = 5 "{{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}}" "0000127759" "05406" "00155231" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cabbage-like breath odor" "" "0000127760" "05406" "00155232" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cabbage-like breath odor" "" "0000127761" "05406" "00155233" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cabbage-like breath odor" "" "0000127762" "05406" "00155234" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cabbage-like breath odor" "" "0000127763" "00198" "00155234" "00006" "Unknown" "" "neurological features" "" "" "" "" "" "" "" "" "" "neurological features" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156095" "00155231" "1" "00006" "00006" "2018-03-18 15:03:07" "" "" "SEQ" "DNA" "" "" "0000156096" "00155232" "1" "00006" "00006" "2018-03-18 15:06:35" "" "" "SEQ" "DNA" "" "" "0000156097" "00155233" "1" "00006" "00006" "2018-03-18 15:10:14" "" "" "SEQ" "DNA" "" "" "0000156098" "00155234" "1" "00006" "00006" "2018-03-18 15:21:58" "" "" "SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000156095" "SELENBP1" "0000156096" "SELENBP1" "0000156097" "SELENBP1" "0000156098" "SELENBP1" "0000156098" "THAP4" ## 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}}" "0000307872" "0" "50" "1" "151338921" "151338921" "subst" "7.34544E-5" "01943" "SELENBP1_000001" "g.151338921C>T" "" "" "" "SELENBP1(NM_001258289.1):c.799G>A (p.G267R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151366445C>T" "" "VUS" "" "0000357990" "3" "90" "1" "151338044" "151338044" "subst" "0" "00006" "SELENBP1_000002" "g.151338044C>A" "" "{PMID:Pol 2018:29255262}" "" "" "" "Germline" "yes" "" "0" "" "" "g.151365568C>A" "" "pathogenic" "" "0000357991" "3" "90" "1" "151340674" "151340674" "subst" "0" "00006" "SELENBP1_000003" "g.151340674C>T" "" "{PMID:Pol 2018:29255262}" "" "" "" "Germline" "" "" "0" "" "" "g.151368198C>T" "" "pathogenic" "" "0000357992" "1" "90" "1" "151338921" "151338921" "subst" "1.63232E-5" "00006" "SELENBP1_000004" "g.151338921C>A" "" "{PMID:Pol 2018:29255262}" "" "" "" "Germline" "yes" "" "0" "" "" "g.151366445C>A" "" "pathogenic" "" "0000357993" "2" "90" "1" "151338098" "151338098" "subst" "0" "00006" "SELENBP1_000005" "g.151338098G>A" "" "{PMID:Pol 2018:29255262}" "" "" "" "Germline" "yes" "" "0" "" "" "g.151365622G>A" "" "pathogenic" "" "0000357994" "3" "90" "1" "151338044" "151338044" "subst" "0" "00006" "SELENBP1_000002" "g.151338044C>A" "" "{PMID:Pol 2018:29255262}" "" "" "" "Germline" "yes" "" "0" "" "" "g.151365568C>A" "" "pathogenic" "" "0000503119" "0" "10" "1" "151337703" "151337703" "subst" "0.00919145" "02327" "SELENBP1_000006" "g.151337703C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151365227C>T" "" "benign" "" "0000503120" "0" "50" "1" "151339278" "151339278" "subst" "0.000117758" "01943" "SELENBP1_000007" "g.151339278C>T" "" "" "" "SELENBP1(NM_001258289.1):c.710G>A (p.R237Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151366802C>T" "" "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 SELENBP1 ## 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}}" "0000307872" "00025259" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Gly225Arg)" "" "0000357990" "00025259" "90" "1039" "0" "1039" "0" "c.1039G>T" "r.(?)" "p.(Gly347*)" "9" "0000357991" "00025259" "90" "481" "1" "481" "1" "c.481+1G>A" "r.spl" "p.?" "5i" "0000357992" "00025259" "90" "673" "0" "673" "0" "c.673G>T" "r.(?)" "p.(Gly225Trp)" "7" "0000357993" "00025259" "90" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(His329Tyr)" "9" "0000357994" "00025259" "90" "1039" "0" "1039" "0" "c.1039G>T" "r.(?)" "p.(Gly347*)" "9" "0000503119" "00025259" "10" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Glu367Lys)" "" "0000503120" "00025259" "50" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000156095" "0000357990" "0000156096" "0000357991" "0000156097" "0000357992" "0000156097" "0000357993" "0000156098" "0000357994"