### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GGPS1) # 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}}" "GGPS1" "geranylgeranyl diphosphate synthase 1" "1" "q43" "unknown" "NC_000001.10" "UD_136087214155" "" "https://www.LOVD.nl/GGPS1" "" "1" "4249" "9453" "606982" "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/GGPS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-30 18:33:06" "00000" "2023-01-11 15:44:22" ## 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}}" "00008482" "GGPS1" "transcript variant 2" "001" "NM_001037277.1" "" "NP_001032354.1" "" "" "" "-84" "2663" "903" "235491753" "235507847" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00315946" "" "" "" "2" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, affected sister/brother, unaffected parents" "F" "" "Ireland;Germany;Poland" "" "0" "" "" "" "Fam1Pat1" "00315947" "" "" "00315946" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "brother" "M" "" "Ireland;Germany;Poland" "" "0" "" "" "" "Fam1Pat2" "00315948" "" "" "" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, 1 affected, unaffected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2Pat3" "00315949" "" "" "" "3" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, 3 affected sibs (2F, M), unaffected parents" "F" "" "Morocco" "" "0" "" "" "" "Fam3Pat4" "00315950" "" "" "00315949" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "brother" "M" "" "Morocco" "" "0" "" "" "" "Fam3Pat5" "00315951" "" "" "00315949" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "sister" "F" "" "Morocco" "" "0" "" "" "" "Fam3Pat6" "00315952" "" "" "" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "China" "" "0" "" "" "Han" "Fam4Pat7" "00315953" "" "" "" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Algeria" "" "0" "" "" "" "Fam5Pat8" "00315954" "" "" "" "3" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, 3 affected sibs (2F, M), unaffected parents" "M" "yes" "Morocco" "" "0" "" "" "" "Fam6Pat9" "00315955" "" "" "00315954" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "sister" "F" "yes" "Morocco" "" "0" "" "" "" "Fam6Pat10" "00315956" "" "" "00315954" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "sister" "F" "yes" "Morocco" "" "0" "" "" "" "Fam6Pat11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00315946" "00198" "00315947" "00198" "00315948" "00198" "00315949" "00198" "00315950" "00198" "00315951" "00198" "00315952" "00198" "00315953" "00198" "00315954" "00198" "00315955" "00198" "00315956" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 11 "{{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}}" "0000239691" "00198" "00315946" "00006" "Familial, autosomal recessive" "31y" "sensorineural hearing loss; 11y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 18,025U/l; primary ovarian failure; failure to thrive" "" "28y" "" "" "" "" "" "" "" "" "" "0000239692" "00198" "00315947" "00006" "Familial, autosomal recessive" "29y" "sensorineural hearing loss; 13y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 11,25U/l; failure to thrive" "" "26y" "" "" "" "" "" "" "" "" "" "0000239693" "00198" "00315948" "00006" "Familial, autosomal recessive" "22y" "sensorineural hearing loss; 15y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 6,641U/l; failure to thrive" "" "21y" "" "" "" "" "" "" "" "" "" "0000239694" "00198" "00315949" "00006" "Familial, autosomal recessive" "46y" "sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 336U/l; primary ovarian failure; no failure to thrive" "" "44y" "" "" "" "" "" "" "" "" "" "0000239695" "00198" "00315950" "00006" "Familial, autosomal recessive" "45y" "sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 4,9U/l; failure to thrive" "" "42y" "" "" "" "" "" "" "" "" "" "0000239696" "00198" "00315951" "00006" "Familial, autosomal recessive" "44y" "sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 281U/l; primary ovarian failure; no failure to thrive" "" "43y" "" "" "" "" "" "" "" "" "" "0000239697" "00198" "00315952" "00006" "Familial, autosomal recessive" "14y" "sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 14,143U/l; primary ovarian failure uncertain due to age; failure to thrive" "" "14y" "" "" "" "" "" "" "" "" "" "0000239698" "00198" "00315953" "00006" "Familial, autosomal recessive" "21y" "sensorineural hearing loss; maximal recorded CK 1,6U/l" "" "14y" "" "" "" "" "" "" "" "" "" "0000239699" "00198" "00315954" "00006" "Familial, autosomal recessive" "22y" "sensorineural hearing loss; 12y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 3,633U/l; failure to thrive" "" "18y" "" "" "" "" "" "" "" "" "" "0000239700" "00198" "00315955" "00006" "Familial, autosomal recessive" "11y" "no sensorineural hearing loss; 11y-wheelchair bound; no respiratory insufficiency; no scoliosis; primary ovarian failure uncertain due to age; failure to thrive" "" "7y" "" "" "" "" "" "" "" "" "" "0000239701" "00198" "00315956" "00006" "Familial, autosomal recessive" "8y" "sensorineural hearing loss; ambulant; no respiratory insufficiency; no scoliosis; primary ovarian failure uncertain due to age; failure to thrive" "" "4y" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000317128" "00315946" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317129" "00315947" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317130" "00315948" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317131" "00315949" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317132" "00315950" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317133" "00315951" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317134" "00315952" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317135" "00315953" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317136" "00315954" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317137" "00315955" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317138" "00315956" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000317128" "GGPS1" "0000317129" "GGPS1" "0000317130" "GGPS1" "0000317131" "GGPS1" "0000317132" "GGPS1" "0000317133" "GGPS1" "0000317134" "GGPS1" "0000317135" "GGPS1" "0000317136" "GGPS1" "0000317137" "GGPS1" "0000317138" "GGPS1" ## 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}}" "0000699318" "1" "90" "1" "235505960" "235505960" "subst" "0" "00006" "GGPS1_000003" "g.235505960A>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "860A>G" "" "Germline" "" "" "0" "" "" "g.235342645A>G" "" "pathogenic (recessive)" "" "0000699319" "1" "90" "1" "235505960" "235505960" "subst" "0" "00006" "GGPS1_000003" "g.235505960A>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "860A>G" "" "Germline" "" "" "0" "" "" "g.235342645A>G" "" "pathogenic (recessive)" "" "0000699320" "1" "90" "1" "235498622" "235498622" "subst" "0" "00006" "GGPS1_000001" "g.235498622C>T" "" "{PMID:Reghan Foley 2020:32403198}" "" "127C>T" "" "Germline" "" "" "0" "" "" "g.235335307C>T" "" "pathogenic (recessive)" "" "0000699321" "3" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "00006" "GGPS1_000005" "g.235505966G>A" "" "{PMID:Reghan Foley 2020:32403198}" "" "866G>A" "" "Germline" "" "" "0" "" "" "g.235342651G>A" "" "pathogenic (recessive)" "" "0000699322" "3" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "00006" "GGPS1_000005" "g.235505966G>A" "" "{PMID:Reghan Foley 2020:32403198}" "" "866G>A" "" "Germline" "" "" "0" "" "" "g.235342651G>A" "" "pathogenic (recessive)" "" "0000699323" "3" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "00006" "GGPS1_000005" "g.235505966G>A" "" "{PMID:Reghan Foley 2020:32403198}" "" "866G>A" "" "Germline" "" "" "0" "" "" "g.235342651G>A" "" "pathogenic (recessive)" "" "0000699324" "3" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "00006" "GGPS1_000005" "g.235505966G>A" "" "{PMID:Reghan Foley 2020:32403198}" "" "866G>A" "" "Germline" "" "" "0" "" "" "g.235342651G>A" "" "pathogenic (recessive)" "" "0000699325" "3" "90" "1" "235505954" "235505954" "subst" "0" "00006" "GGPS1_000002" "g.235505954T>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "854T>G" "" "Germline" "" "" "0" "" "" "g.235342639T>G" "" "pathogenic (recessive)" "" "0000699326" "3" "90" "1" "235505954" "235505954" "subst" "0" "00006" "GGPS1_000002" "g.235505954T>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "854T>G" "" "Germline" "" "" "0" "" "" "g.235342639T>G" "" "pathogenic (recessive)" "" "0000699327" "3" "90" "1" "235505954" "235505954" "subst" "0" "00006" "GGPS1_000002" "g.235505954T>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "854T>G" "" "Germline" "" "" "0" "" "" "g.235342639T>G" "" "pathogenic (recessive)" "" "0000699328" "3" "90" "1" "235505954" "235505954" "subst" "0" "00006" "GGPS1_000002" "g.235505954T>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "854T>G" "" "Germline" "" "" "0" "" "" "g.235342639T>G" "" "pathogenic (recessive)" "" "0000699329" "2" "90" "1" "235505965" "235505965" "subst" "4.0622E-6" "00006" "GGPS1_000004" "g.235505965C>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "865C>G" "" "Germline" "" "" "0" "" "" "g.235342650C>G" "" "pathogenic (recessive)" "" "0000699330" "2" "90" "1" "235505965" "235505965" "subst" "4.0622E-6" "00006" "GGPS1_000004" "g.235505965C>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "865C>G" "" "Germline" "" "" "0" "" "" "g.235342650C>G" "" "pathogenic (recessive)" "" "0000699331" "2" "90" "1" "235505965" "235505965" "subst" "4.0622E-6" "00006" "GGPS1_000004" "g.235505965C>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "865C>G" "" "Germline" "" "" "0" "" "" "g.235342650C>G" "" "pathogenic (recessive)" "" "0000857344" "0" "90" "1" "235505954" "235505954" "subst" "0" "01804" "GGPS1_000002" "g.235505954T>G" "" "" "" "GGPS1(NM_001037277.1):c.770T>G (p.(Phe257Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910979" "0" "50" "1" "235505320" "235505320" "dup" "0" "02329" "GGPS1_000006" "g.235505320dup" "" "" "" "GGPS1(NM_001371478.1):c.142-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910980" "0" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "02329" "GGPS1_000005" "g.235505966G>A" "" "" "" "GGPS1(NM_001371478.1):c.782G>A (p.R261H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 GGPS1 ## 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}}" "0000699318" "00008482" "90" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Tyr259Cys)" "" "0000699319" "00008482" "90" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Tyr259Cys)" "" "0000699320" "00008482" "90" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Pro15Ser)" "" "0000699321" "00008482" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000699322" "00008482" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000699323" "00008482" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000699324" "00008482" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000699325" "00008482" "90" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0000699326" "00008482" "90" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0000699327" "00008482" "90" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0000699328" "00008482" "90" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0000699329" "00008482" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Arg261Gly)" "" "0000699330" "00008482" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Arg261Gly)" "" "0000699331" "00008482" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Arg261Gly)" "" "0000857344" "00008482" "90" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0000910979" "00008482" "50" "142" "-6" "142" "-6" "c.142-6dup" "r.(=)" "p.(=)" "" "0000910980" "00008482" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000317128" "0000699318" "0000317128" "0000699329" "0000317129" "0000699319" "0000317129" "0000699330" "0000317130" "0000699320" "0000317130" "0000699331" "0000317131" "0000699321" "0000317132" "0000699322" "0000317133" "0000699323" "0000317134" "0000699324" "0000317135" "0000699325" "0000317136" "0000699326" "0000317137" "0000699327" "0000317138" "0000699328"