### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HMOX1) # 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}}" "HMOX1" "heme oxygenase (decycling) 1" "22" "q12" "unknown" "NG_023030.1" "UD_132084529421" "" "http://www.LOVD.nl/HMOX1" "IthaNet " "1" "5013" "3162" "141250" "1" "1" "1" "1" "This LOVD database collaborates and exchanges data with:\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/HMOX1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-14 12:02:50" "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}}" "00009488" "HMOX1" "heme oxygenase (decycling) 1" "001" "NM_002133.2" "" "NP_002124.1" "" "" "" "-107" "1483" "867" "35777060" "35790207" "" "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}}" "02472" "anemia, sickle cell" "anemia, sickle cell (HbS disease)" "AR" "603903" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-11-01 16:48:06" "02618" "COPD" "pulmonary disease, obstructive, chronic, susceptibility to (COPD)" "" "606963" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "03522" "HMOX1D" "heme oxygenase 1 deficiency (HMOX1D)" "" "614034" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-01-14 06:52:04" "05119" "HBFQTL" "hemoglobin, fetal, quantitative trait locus (HBFQTL)" "" "" "" "" "" "00006" "2016-01-14 07:06:31" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "HMOX1" "02618" "HMOX1" "03522" "HMOX1" "05119" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00057173" "" "" "" "30" "" "00006" "{PMID:Gil 2013:23725037}, {DOI:Gil 2013:10.3109/03630269.2013.789438}" "111 controls compared with 107 sickle cell anemia patients" "-" "-" "Brazil" "" "0" "" "" "" "" "00057175" "" "" "" "1" "" "00006" "{PMID:Yachie:1999:9884342}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Japan" ">06y" "0" "" "regular transfusions of erythrocytes" "" "" "00057176" "" "" "" "159" "" "00006" "{PMID:Yamada 2000:10631150}" "comparison 101 smokers with/100 without chronic pulmonary emphysema" "F;M" "" "Japan" "" "0" "" "" "" "" "00057177" "" "" "" "181" "" "00006" "{PMID:Yamada 2000:10631150}" "comparison 101 smokers with/100 without chronic pulmonary emphysema" "F;M" "" "Japan" "" "0" "" "" "" "" "00057178" "" "" "" "62" "" "00006" "{PMID:Yamada 2000:10631150}" "comparison 101 smokers with/100 without chronic pulmonary emphysema" "F;M" "" "Japan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00057173" "02472" "00057173" "05119" "00057175" "03522" "00057176" "02618" "00057177" "02618" "00057178" "02618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02472, 02618, 03522, 05119 ## 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}}" "0000043858" "05119" "00057173" "00006" "Familial, autosomal recessive" "" "significantly higher HbF levels compared to AA and AT genotypes\r\n(P 0.0131)" "" "" "" "" "" "" "" "" "" "0000043860" "03522" "00057175" "00006" "Familial, autosomal recessive" "" "see paper; severe growth retardation, persistent hemolytic anemia characterized by marked erythrocyte fragmentation and intravascular hemolysis, with paradoxical increase serum haptoglobin and low bilirubin, abnormal coagulation/fibrinolysis system, associated with elevated thrombomodulin and von Willebrand factor, indicated severe, persistent endothelial damage; electron microscopy renal glomeruli revealed endothelium detachment, with subendothelial deposition of unidentified material; iron deposition renal/hepatic tissue, ..." "02y02m" "" "recurrent fever (HP:0001954), generalized erythematous rash (HP:0007432)" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000057134" "00057173" "1" "00006" "00006" "2016-01-14 07:17:31" "" "" "SEQ" "DNA" "" "" "0000057136" "00057175" "1" "00006" "00006" "2016-01-14 12:18:44" "" "" "RT-PCR;SEQ" "DNA;RNA" "LCL" "" "0000057137" "00057176" "1" "00006" "00006" "2016-01-14 13:00:05" "" "" "micro;PCR" "DNA" "" "" "0000057138" "00057177" "1" "00006" "00006" "2016-01-14 13:18:42" "" "" "micro;PCR" "DNA" "" "" "0000057139" "00057178" "1" "00006" "00006" "2016-01-14 13:27:05" "" "" "MIC;PCR" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000057134" "HMOX1" "0000057136" "HMOX1" "0000057137" "HMOX1" "0000057138" "HMOX1" "0000057139" "HMOX1" ## 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 = 25 "{{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}}" "0000087421" "3" "70" "22" "35776672" "35776672" "subst" "0" "00006" "HMOX1_000001" "g.35776672A>T" "30/107 cases" "{PMID:Gil 2013:23725037}, {DOI:Gil 2013:10.3109/03630269.2013.789438}, {DB:IN2120}" "" "rs2071746:A>T" "associated with increased levels of HbF (P=0.0131); 47/107 heterozygotes and 30 wt show no association" "Germline" "-" "rs2071746" "0" "" "" "g.35380679A>T" "" "association" "" "0000087423" "11" "90" "22" "35782857" "35782858" "del" "0" "00006" "HMOX1_000002" "g.35782857_35782858del" "" "{PMID:Yachie:1999:09884342}, {OMIM141250:0002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35386864_35386865del" "" "pathogenic" "" "0000087424" "21" "90" "22" "35777190" "35782677" "" "0" "00006" "HMOX1_000000" "g.(35777190_35782677)?" "" "{PMID:Yachie:1999:09884342}, {OMIM141250:0001}" "" "RNA ex2 del" "variant not analysed on genomic DNA" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000087425" "1" "10" "22" "0" "0" "" "0" "00006" "HMOX1_000003" "g.35776812_35776898[del14_28]" "159/402 chromosomes" "{PMID:Yamada 2000:10631150}, {OMIM141250:0003}" "" "GTnAT1GTn repeat" "normal expression, promoter upregulated by H2O2 exposure" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000087426" "1" "70" "22" "0" "0" "" "0" "00006" "HMOX1_000004" "g.35776812_35776898[del2_10]" "181/402 chromosomes" "{PMID:Yamada 2000:10631150}, {OMIM141250:0003}" "" "GT repeat" "reduced expression, promoter not upregulated by H2O2 exposure; not associated with chronic pulmonary emphysema" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000087427" "1" "90" "22" "0" "0" "" "0" "00006" "HMOX1_000005" "g.35776812_35776898[ins0_16]" "62/402 chromosomes" "{PMID:Yamada 2000:10631150}, {OMIM141250:0003}" "" "GTnAT1GTn repeat" "reduced expression, promoter not upregulated by H2O2 exposure; associated with chronic pulmonary emphysema in smokers" "Germline" "" "" "0" "" "" "" "" "association" "" "0000571855" "0" "30" "22" "35782863" "35782863" "subst" "0.00174854" "01943" "HMOX1_000006" "g.35782863C>T" "" "" "" "HMOX1(NM_002133.2):c.330C>T (p.A110=), HMOX1(NM_002133.3):c.330C>T (p.A110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35386870C>T" "" "likely benign" "" "0000571856" "0" "30" "22" "35783110" "35783110" "subst" "0.00107326" "01943" "HMOX1_000007" "g.35783110C>T" "" "" "" "HMOX1(NM_002133.2):c.577C>T (p.P193S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35387117C>T" "" "likely benign" "" "0000618569" "0" "30" "22" "35782863" "35782863" "subst" "0.00174854" "02326" "HMOX1_000006" "g.35782863C>T" "" "" "" "HMOX1(NM_002133.2):c.330C>T (p.A110=), HMOX1(NM_002133.3):c.330C>T (p.A110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35386870C>T" "" "likely benign" "" "0000624293" "0" "30" "22" "35785929" "35785929" "subst" "0.00114943" "02326" "HMOX1_000008" "g.35785929C>G" "" "" "" "HMOX1(NM_002133.2):c.709C>G (p.R237G), HMOX1(NM_002133.3):c.709C>G (p.R237G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35389936C>G" "" "likely benign" "" "0000658937" "0" "30" "22" "35789560" "35789560" "subst" "0.000243639" "02326" "HMOX1_000009" "g.35789560C>T" "" "" "" "HMOX1(NM_002133.3):c.836C>T (p.A279V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35393567C>T" "" "likely benign" "" "0000681866" "0" "50" "22" "35777193" "35777193" "subst" "0" "01804" "HMOX1_000010" "g.35777193A>G" "" "" "" "HMOX1(NM_002133.2):c.23+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681867" "0" "30" "22" "35777211" "35777217" "dup" "0" "02326" "HMOX1_000011" "g.35777211_35777217dup" "" "" "" "HMOX1(NM_002133.3):c.23+20_23+26dupCGCGGGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681868" "0" "30" "22" "35785929" "35785929" "subst" "0.00114943" "01943" "HMOX1_000008" "g.35785929C>G" "" "" "" "HMOX1(NM_002133.2):c.709C>G (p.R237G), HMOX1(NM_002133.3):c.709C>G (p.R237G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693169" "0" "30" "22" "35782824" "35782824" "subst" "0.00186171" "02326" "HMOX1_000012" "g.35782824C>T" "" "" "" "HMOX1(NM_002133.3):c.291C>T (p.Y97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728126" "0" "10" "22" "35782911" "35782911" "subst" "0.00103179" "02326" "HMOX1_000013" "g.35782911C>T" "" "" "" "HMOX1(NM_002133.3):c.378C>T (p.(Pro126=), p.P126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809590" "0" "30" "22" "35782871" "35782871" "subst" "5.69736E-5" "01943" "HMOX1_000014" "g.35782871G>A" "" "" "" "HMOX1(NM_002133.2):c.338G>A (p.R113H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809591" "0" "50" "22" "35789521" "35789521" "subst" "0.000592893" "01943" "HMOX1_000015" "g.35789521C>T" "" "" "" "HMOX1(NM_002133.2):c.797C>T (p.P266L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856146" "0" "30" "22" "35789564" "35789564" "subst" "0.000576612" "01943" "HMOX1_000017" "g.35789564A>G" "" "" "" "HMOX1(NM_002133.2):c.840A>G (p.T280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866822" "0" "30" "22" "35789465" "35789465" "subst" "0.000121931" "01943" "HMOX1_000016" "g.35789465T>C" "" "" "" "HMOX1(NM_002133.2):c.741T>C (p.S247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895694" "0" "30" "22" "35782802" "35782802" "subst" "0" "02326" "HMOX1_000018" "g.35782802A>C" "" "" "" "HMOX1(NM_002133.3):c.269A>C (p.E90A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915531" "0" "10" "22" "35783136" "35783136" "subst" "0.00150949" "02326" "HMOX1_000019" "g.35783136A>G" "" "" "" "HMOX1(NM_002133.3):c.603A>G (p.E201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915532" "0" "30" "22" "35783154" "35783154" "subst" "0.000725642" "02326" "HMOX1_000020" "g.35783154C>T" "" "" "" "HMOX1(NM_002133.3):c.621C>T (p.F207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951596" "0" "30" "22" "35785936" "35785936" "subst" "7.43458E-5" "02326" "HMOX1_000021" "g.35785936G>A" "" "" "" "HMOX1(NM_002133.3):c.716G>A (p.R239Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984201" "0" "30" "22" "35782911" "35782911" "subst" "0.00103179" "01804" "HMOX1_000013" "g.35782911C>T" "" "" "" "HMOX1(NM_002133.3):c.378C>T (p.(Pro126=), p.P126=)" "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 HMOX1 ## Count = 25 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000087421" "00009488" "70" "-495" "0" "-495" "0" "c.-495A>T" "r.(=)" "p.(=)" "_1" "" "0000087423" "00009488" "90" "324" "0" "325" "0" "c.324_325del" "r.324_325del" "p.Pro109Serfs*31" "3" "" "0000087424" "00009488" "90" "23" "1" "145" "-1" "c.(23+1_145-1)?" "r.24_144del" "p.Met9Trpfs*2" "1i_2i" "" "0000087425" "00009488" "10" "0" "0" "0" "0" "c.(-355_-269)[del12_28]" "r.(=)" "p.(=)" "_1" "S" "0000087426" "00009488" "70" "0" "0" "0" "0" "c.(-355_-269)[del2_10]" "r.(=)" "p.(=)" "_1" "M" "0000087427" "00009488" "90" "0" "0" "0" "0" "c.(-355_-269)[ins0_16]" "r.(=)" "p.(=)" "_1" "L" "0000571855" "00009488" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Ala110=)" "" "" "0000571856" "00009488" "30" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Pro193Ser)" "" "" "0000618569" "00009488" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Ala110=)" "" "" "0000624293" "00009488" "30" "709" "0" "709" "0" "c.709C>G" "r.(?)" "p.(Arg237Gly)" "" "" "0000658937" "00009488" "30" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Ala279Val)" "" "" "0000681866" "00009488" "50" "23" "4" "23" "4" "c.23+4A>G" "r.spl?" "p.?" "" "" "0000681867" "00009488" "30" "23" "22" "23" "28" "c.23+22_23+28dup" "r.(=)" "p.(=)" "" "" "0000681868" "00009488" "30" "709" "0" "709" "0" "c.709C>G" "r.(?)" "p.(Arg237Gly)" "" "" "0000693169" "00009488" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Tyr97=)" "" "" "0000728126" "00009488" "10" "378" "0" "378" "0" "c.378C>T" "r.(?)" "p.(Pro126=)" "" "" "0000809590" "00009488" "30" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113His)" "" "" "0000809591" "00009488" "50" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Pro266Leu)" "" "" "0000856146" "00009488" "30" "840" "0" "840" "0" "c.840A>G" "r.(?)" "p.(Thr280=)" "" "" "0000866822" "00009488" "30" "741" "0" "741" "0" "c.741T>C" "r.(?)" "p.(Ser247=)" "" "" "0000895694" "00009488" "30" "269" "0" "269" "0" "c.269A>C" "r.(?)" "p.(Glu90Ala)" "" "" "0000915531" "00009488" "10" "603" "0" "603" "0" "c.603A>G" "r.(?)" "p.(Glu201=)" "" "" "0000915532" "00009488" "30" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Phe207=)" "" "" "0000951596" "00009488" "30" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Arg239Gln)" "" "" "0000984201" "00009488" "30" "378" "0" "378" "0" "c.378C>T" "r.(?)" "p.(Pro126=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000057134" "0000087421" "0000057136" "0000087423" "0000057136" "0000087424" "0000057137" "0000087425" "0000057138" "0000087426" "0000057139" "0000087427"