### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FSHB) # 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}}" "FSHB" "follicle stimulating hormone, beta polypeptide" "11" "p13" "unknown" "NG_008144.1" "UD_132085256056" "" "https://www.LOVD.nl/FSHB" "" "1" "3964" "2488" "136530" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-19 08:27:40" "00006" "2021-10-19 16:44:28" ## 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}}" "00008171" "FSHB" "transcript variant 1" "001" "NM_000510.2" "" "NP_000501.1" "" "" "" "-69" "1867" "390" "30252563" "30256824" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "01388" "HH7" "hypogonadism, hypogonadotropic, type 7 (HH7)" "AR" "146110" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01790" "HH24" "hypogonadism, hypogonadotropic, type 24, without anosmia (HH24)" "AR" "229070" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-19 08:26:49" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FSHB" "01388" "FSHB" "01790" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00385933" "" "" "" "1" "" "00006" "{PMID:Matthews 1993:8220432}" "" "F" "" "Italy" "" "0" "" "" "" "patient" "00385934" "" "" "" "1" "" "00006" "{PMID:Matthews 1997:9280841}" "2-generation family, 1 affected, unaffected heterozygous carrier relatives" "F" "" "Israel" "" "0" "" "" "Jewish-Europe" "patient" "00385935" "" "" "" "1" "" "00006" "{PMID:Layman 1997:9271483}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "patient" "00385984" "" "" "" "1" "" "00006" "{PMID:Phillip 1998:9624193}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Israel" "" "0" "" "" "" "patient" "00385985" "" "" "" "2" "" "00006" "{PMID:Layman 2002:12161499}, {PMID:Lofrano-Porto 2008:17961559}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F" "yes" "Brazil" "" "0" "" "" "" "FamPatII1" "00385986" "" "" "00385985" "1" "" "00006" "{PMID:Layman 2002:12161499}, {PMID:Lofrano-Porto 2008:17961559}" "brother" "M" "yes" "Brazil" "" "0" "" "" "" "FamPatII2" "00385987" "" "" "" "1" "" "00006" "{PMID:Lindstedt 1998:9806482}" "2-generation family, 1 affected" "M" "" "Serbia" "" "0" "" "" "" "patient" "00385988" "" "" "" "1" "" "00006" "{PMID:Berger 2005:15705395}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00385933" "01388" "00385934" "01388" "00385935" "01388" "00385984" "00198" "00385985" "00198" "00385986" "00198" "00385987" "00201" "00385988" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00201, 01388, 01790 ## Count = 8 "{{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}}" "0000279734" "01388" "00385933" "00006" "Familial, autosomal recessive" "" "see paper; ..., primary amenorrhea, infertility, isolated deficiency pituitary FSH, normal LH" "" "" "" "" "" "" "" "" "HH24" "primary amenorrhea, infertility" "" "0000279735" "01388" "00385934" "00006" "Familial, autosomal recessive" "" "primary amenorrhea, isolated FSH deficiency" "" "" "" "" "" "" "" "" "HH24" "primary amenorrhea" "" "0000279736" "01388" "00385935" "00006" "Familial, autosomal recessive" "" "see paper; ..., delayed puberty, hypogonadism, FSH deficiency" "" "" "" "" "" "" "" "" "HH24" "delayed puberty" "" "0000279787" "00198" "00385984" "00006" "Familial, autosomal recessive" "18y" "see paper; ..." "" "" "" "" "" "" "" "" "" "delayed puberty" "" "0000279788" "00198" "00385985" "00006" "Familial, autosomal recessive" "32y" "see paper; ..., partial breast development, primary amenorrhea, low estradiol" "" "" "" "" "" "" "" "" "" "partial breast development" "" "0000279789" "00198" "00385986" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., infertility, normal puberty, normal erections, normal ejaculation" "" "" "" "" "" "" "" "" "" "infertility" "" "0000279790" "00201" "00385987" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., infertility, azoospermia, undetectable FSH" "" "" "" "" "" "" "" "" "" "infertility" "" "0000279791" "00198" "00385988" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., primary amenorrhea; 12y-breast development (modest), pubic hair development" "" "" "" "" "" "" "" "" "" "primary amenorrhea" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000387161" "00385933" "1" "00006" "00006" "2021-10-19 08:34:07" "" "" "SEQ" "DNA" "" "" "0000387162" "00385934" "1" "00006" "00006" "2021-10-19 08:39:38" "" "" "SEQ" "DNA" "" "" "0000387163" "00385935" "1" "00006" "00006" "2021-10-19 08:43:53" "" "" "SEQ" "DNA" "" "" "0000387212" "00385984" "1" "00006" "00006" "2021-10-19 16:11:20" "" "" "SEQ" "DNA" "" "" "0000387213" "00385985" "1" "00006" "00006" "2021-10-19 16:17:59" "" "" "SEQ" "DNA" "" "" "0000387214" "00385986" "1" "00006" "00006" "2021-10-19 16:24:38" "" "" "SEQ" "DNA" "" "" "0000387215" "00385987" "1" "00006" "00006" "2021-10-19 16:29:27" "" "" "SEQ" "DNA" "" "" "0000387216" "00385988" "1" "00006" "00006" "2021-10-19 16:40:14" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000387161" "FSHB" "0000387162" "FSHB" "0000387163" "FSHB" "0000387212" "FSHB" "0000387213" "FSHB" "0000387214" "FSHB" "0000387215" "FSHB" "0000387216" "FSHB" ## 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 = 10 "{{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}}" "0000815030" "3" "90" "11" "30255193" "30255194" "del" "0" "00006" "FSHB_000001" "g.30255193_30255194del" "" "{PMID:Matthews 1993:8220432}" "" "" "" "Germline" "" "rs5030646" "0" "" "236_237delTG" "g.30233646_30233647del" "" "pathogenic (recessive)" "" "0000815031" "3" "90" "11" "30255193" "30255194" "del" "0" "00006" "FSHB_000001" "g.30255193_30255194del" "" "{PMID:Matthews 1997:9280841}" "" "" "" "Germline" "" "" "0" "" "" "g.30233646_30233647del" "" "pathogenic (recessive)" "" "0000815032" "21" "90" "11" "30255193" "30255194" "del" "0" "00006" "FSHB_000001" "g.30255193_30255194del" "" "{PMID:Layman 1997:9271483}" "" "delTG Val61X" "" "Germline" "" "" "0" "" "" "g.30233646_30233647del" "" "pathogenic (recessive)" "" "0000815033" "11" "90" "11" "30255162" "30255162" "subst" "0" "00006" "FSHB_000002" "g.30255162T>G" "" "{PMID:Layman 1997:9271483}" "" "T>G Cys51Gly" "" "Germline" "" "rs5030776" "0" "" "" "g.30233615T>G" "" "pathogenic (recessive)" "" "0000815092" "3" "90" "11" "30255193" "30255194" "del" "0" "00006" "FSHB_000001" "g.30255193_30255194del" "" "{PMID:Phillip 1998:9624193}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815093" "3" "90" "11" "30255239" "30255239" "subst" "0" "00006" "FSHB_000003" "g.30255239C>A" "" "{PMID:Layman 2002:12161499}" "" "Y76X" "" "Germline" "" "rs121909666" "0" "" "" "g.30233692C>A" "" "pathogenic (recessive)" "" "0000815094" "3" "90" "11" "30255239" "30255239" "subst" "0" "00006" "FSHB_000003" "g.30255239C>A" "" "{PMID:Layman 2002:12161499}" "" "" "" "Germline" "" "" "0" "" "" "g.30233692C>A" "" "pathogenic (recessive)" "" "0000815095" "3" "90" "11" "30255255" "30255255" "subst" "0" "00006" "FSHB_000004" "g.30255255T>C" "" "{PMID:Lindstedt 1998:9806482}" "" "C>T Cys82Arg" "" "Germline" "" "rs5030777" "0" "" "" "g.30233708T>C" "" "pathogenic (recessive)" "" "0000815096" "3" "90" "11" "30255239" "30255239" "subst" "0" "00006" "FSHB_000003" "g.30255239C>A" "" "{PMID:Berger 2005:15705395}" "" "C>A Tyr76X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815097" "3" "10" "11" "30255185" "30255185" "subst" "0.511322" "00006" "FSHB_000005" "g.30255185C>T" "" "{PMID:Berger 2005:15705395}" "" "codon58 T>C" "" "Germline" "" "" "0" "" "" "" "" "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 FSHB ## Count = 10 "{{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}}" "0000815030" "00008171" "90" "236" "0" "237" "0" "c.236_237del" "r.(?)" "p.(Val79Glufs*27)" "" "0000815031" "00008171" "90" "236" "0" "237" "0" "c.236_237del" "r.(?)" "p.(Val79Glufs*27)" "" "0000815032" "00008171" "90" "236" "0" "237" "0" "c.236_237del" "r.(?)" "p.(Val79Glufs*27)" "" "0000815033" "00008171" "90" "205" "0" "205" "0" "c.205T>G" "r.(?)" "p.(Cys69Gly)" "" "0000815092" "00008171" "90" "236" "0" "237" "0" "c.236_237del" "r.(?)" "p.(Val79Glufs*27)" "" "0000815093" "00008171" "90" "282" "0" "282" "0" "c.282C>A" "r.(?)" "p.(Tyr94*)" "" "0000815094" "00008171" "90" "282" "0" "282" "0" "c.282C>A" "r.(?)" "p.(Tyr94*)" "" "0000815095" "00008171" "90" "298" "0" "298" "0" "c.298T>C" "r.(?)" "p.(Cys100Arg)" "" "0000815096" "00008171" "90" "282" "0" "282" "0" "c.282C>A" "r.(?)" "p.(Tyr94*)" "" "0000815097" "00008171" "10" "228" "0" "228" "0" "c.228C>T" "r.(=)" "p.(Tyr76=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000387161" "0000815030" "0000387162" "0000815031" "0000387163" "0000815032" "0000387163" "0000815033" "0000387212" "0000815092" "0000387213" "0000815093" "0000387214" "0000815094" "0000387215" "0000815095" "0000387216" "0000815096" "0000387216" "0000815097"