### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GPX4) # 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}}" "GPX4" "glutathione peroxidase 4" "19" "p13.3" "unknown" "NG_050621.1" "UD_132438016356" "" "https://www.LOVD.nl/GPX4" "" "1" "4556" "2879" "138322" "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/GPX4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-12-12 16:29:31" "00006" "2025-11-20 12:33:25" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00008898" "GPX4" "glutathione peroxidase 4 (phospholipid hydroperoxidase), transcript variant 1" "002" "NM_002085.3" "" "NP_002076.2" "" "" "" "-107" "810" "594" "1103936" "1106787" "" "0000-00-00 00:00:00" "" "" "00025346" "GPX4" "transcript variant 3" "003" "NM_001039848.1" "" "NP_001034937.1" "" "" "" "-85" "921" "705" "1104649" "1106787" "00006" "2018-12-12 16:28:44" "" "" ## 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}}" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06404" "SMDS" "Spondylometaphyseal dysplasia, Sedaghatian type" "AR" "250220" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GPX4" "06404" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00469821" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00469821" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05517, 06404 ## Count = 1 "{{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}}" "0000354966" "05517" "00469821" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SMDS" "skeletal dysplasia" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000471489" "00469821" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 19 "{{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}}" "0000326032" "0" "30" "19" "1106628" "1106628" "subst" "5.63566E-5" "01804" "GPX4_000002" "g.1106628C>T" "" "" "" "GPX4(NM_001039847.1):c.673C>T (p.(Arg225Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1106629C>T" "" "likely benign" "" "0000326034" "0" "30" "19" "1108963" "1108963" "subst" "4.69205E-5" "01804" "SBNO2_000002" "g.1108963C>T" "" "" "" "SBNO2(NM_001100122.1):c.3260G>A (p.(Arg1087Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1108964C>T" "" "likely benign" "" "0000326035" "0" "30" "19" "1109595" "1109595" "subst" "0.00738665" "01804" "SBNO2_000003" "g.1109595G>T" "" "" "" "SBNO2(NM_001100122.1):c.2955C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1109596G>T" "" "likely benign" "" "0000565624" "0" "30" "19" "1105690" "1105690" "subst" "0.000823316" "01804" "GPX4_000005" "g.1105690G>A" "" "" "" "GPX4(NM_001039847.1):c.358G>A (p.(Ala120Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1105691G>A" "" "likely benign" "" "0000565625" "0" "50" "19" "1105729" "1105729" "subst" "0" "01804" "GPX4_000006" "g.1105729A>T" "" "" "" "GPX4(NM_001039847.1):c.397A>T (p.(Ile133Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1105730A>T" "" "VUS" "" "0000565627" "0" "50" "19" "1108842" "1108842" "subst" "0" "01804" "GPX4_000008" "g.1108842G>C" "" "" "" "SBNO2(NM_001100122.1):c.3381C>G (p.(Asp1127Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1108843G>C" "" "VUS" "" "0000617294" "0" "50" "19" "1104777" "1104777" "subst" "0" "01804" "GPX4_000009" "g.1104777G>C" "" "" "" "GPX4(NM_001039848.1):c.44G>C (p.(Arg15Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1104778G>C" "" "VUS" "" "0000617295" "0" "70" "19" "1105487" "1105487" "subst" "3.26803E-5" "01804" "GPX4_000010" "g.1105487C>G" "" "" "" "GPX4(NM_001039848.1):c.413C>G (p.(Pro138Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1105488C>G" "" "likely pathogenic" "" "0000617296" "0" "70" "19" "1105662" "1105662" "dup" "0" "01804" "GPX4_000011" "g.1105662dup" "" "" "" "GPX4(NM_001039848.1):c.441dup (p.(Gly148ArgfsTer?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1105663dup" "" "likely pathogenic" "" "0000727042" "0" "30" "19" "1105723" "1105723" "subst" "0.00563482" "01804" "GPX4_000012" "g.1105723A>G" "" "" "" "GPX4(NM_001039847.1):c.391A>G (p.(Ser131Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855390" "0" "50" "19" "1106554" "1106554" "subst" "0" "01943" "GPX4_000013" "g.1106554C>T" "" "" "" "GPX4(NM_001039847.3):c.599C>T (p.P200L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915095" "0" "30" "19" "1106532" "1106532" "subst" "0.00244097" "01804" "GPX4_000014" "g.1106532C>G" "" "" "" "GPX4(NM_001039847.1):c.584-7C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926784" "0" "50" "19" "1106611" "1106611" "subst" "6.65314E-5" "01804" "GPX4_000015" "g.1106611C>A" "" "" "" "GPX4(NM_001039847.1):c.656C>A (p.(Ala219Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930986" "0" "30" "19" "1111619" "1111619" "subst" "0" "01804" "GPX4_000016" "g.1111619G>A" "" "" "" "SBNO2(NM_001100122.1):c.2530-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042556" "0" "50" "19" "1106596" "1106611" "dup" "0" "01804" "GPX4_000017" "g.1106596_1106611dup" "" "" "" "GPX4(NM_001039847.3):c.641_656dup (p.(Leu220Serfs*?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056394" "0" "50" "19" "1104878" "1104878" "subst" "1.45847E-5" "01804" "GPX4_000018" "g.1104878C>T" "" "" "" "GPX4(NM_001039848.4):c.145C>T (p.(Pro49Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056395" "0" "50" "19" "1105286" "1105286" "subst" "8.6151E-5" "01804" "GPX4_000019" "g.1105286G>A" "" "" "" "GPX4(NM_002085.5):c.179+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056396" "0" "50" "19" "1106393" "1106393" "subst" "4.06435E-6" "01804" "GPX4_000020" "g.1106393C>G" "" "" "" "GPX4(NM_001039847.3):c.518C>G (p.(Ser173Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059637" "3" "70" "19" "1106433" "1106433" "subst" "2.43827E-5" "00006" "GPX4_000021" "g.1106433G>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.1106434G>A" "SCV002054007.1" "likely pathogenic (recessive)" "" ## 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 GPX4 ## Count = 37 "{{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}}" "0000326032" "00025346" "30" "762" "0" "762" "0" "c.*57C>T" "r.(=)" "p.(=)" "" "0000326032" "00008898" "30" "651" "0" "651" "0" "c.*57C>T" "r.(=)" "p.(=)" "" "0000326034" "00025346" "30" "3097" "0" "3097" "0" "c.*2392C>T" "r.(=)" "p.(=)" "" "0000326034" "00008898" "30" "2986" "0" "2986" "0" "c.*2392C>T" "r.(=)" "p.(=)" "" "0000326035" "00025346" "30" "3729" "0" "3729" "0" "c.*3024G>T" "r.(=)" "p.(=)" "" "0000326035" "00008898" "30" "3618" "0" "3618" "0" "c.*3024G>T" "r.(=)" "p.(=)" "" "0000565624" "00025346" "30" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.?" "" "0000565624" "00008898" "30" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.?" "" "0000565625" "00025346" "50" "508" "0" "508" "0" "c.508A>T" "r.(?)" "p.?" "" "0000565625" "00008898" "50" "397" "0" "397" "0" "c.397A>T" "r.(?)" "p.?" "" "0000565627" "00025346" "50" "2976" "0" "2976" "0" "c.*2271G>C" "r.(=)" "p.(=)" "" "0000565627" "00008898" "50" "2865" "0" "2865" "0" "c.*2271G>C" "r.(=)" "p.(=)" "" "0000617294" "00025346" "50" "44" "0" "44" "0" "c.44G>C" "r.(?)" "p.?" "" "0000617294" "00008898" "50" "85" "-408" "85" "-408" "c.85-408G>C" "r.(=)" "p.(=)" "" "0000617295" "00025346" "70" "413" "0" "413" "0" "c.413C>G" "r.(?)" "p.?" "" "0000617295" "00008898" "70" "302" "0" "302" "0" "c.302C>G" "r.(?)" "p.?" "" "0000617296" "00025346" "70" "441" "0" "441" "0" "c.441dup" "r.?" "p.?" "" "0000617296" "00008898" "70" "330" "0" "330" "0" "c.330dup" "r.?" "p.?" "" "0000727042" "00025346" "30" "502" "0" "502" "0" "c.502A>G" "r.(?)" "p.?" "" "0000727042" "00008898" "30" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.?" "" "0000855390" "00025346" "50" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.?" "" "0000855390" "00008898" "50" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.?" "" "0000915095" "00025346" "30" "673" "-7" "673" "-7" "c.673-7C>G" "r.(=)" "p.(=)" "" "0000915095" "00008898" "30" "562" "-7" "562" "-7" "c.562-7C>G" "r.(=)" "p.(=)" "" "0000926784" "00025346" "50" "745" "0" "745" "0" "c.*40C>A" "r.(=)" "p.(=)" "" "0000926784" "00008898" "50" "634" "0" "634" "0" "c.*40C>A" "r.(=)" "p.(=)" "" "0000930986" "00025346" "30" "5753" "0" "5753" "0" "c.*5048G>A" "r.(=)" "p.(=)" "" "0000930986" "00008898" "30" "5642" "0" "5642" "0" "c.*5048G>A" "r.(=)" "p.(=)" "" "0001042556" "00025346" "50" "730" "0" "745" "0" "c.*25_*40dup" "r.(=)" "p.(=)" "" "0001042556" "00008898" "50" "619" "0" "634" "0" "c.*25_*40dup" "r.(=)" "p.(=)" "" "0001056394" "00025346" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.?" "" "0001056394" "00008898" "50" "85" "-307" "85" "-307" "c.85-307C>T" "r.(=)" "p.(=)" "" "0001056395" "00025346" "50" "290" "7" "290" "7" "c.290+7G>A" "r.(=)" "p.(=)" "" "0001056395" "00008898" "50" "179" "7" "179" "7" "c.179+7G>A" "r.(=)" "p.(=)" "" "0001056396" "00025346" "50" "613" "-6" "613" "-6" "c.613-6C>G" "r.(=)" "p.(=)" "" "0001056396" "00008898" "50" "502" "-6" "502" "-6" "c.502-6C>G" "r.(=)" "p.(=)" "" "0001059637" "00008898" "70" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000471489" "0001059637"