### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UROS) # 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}}" "UROS" "uroporphyrinogen III synthase" "10" "q25.2-q26.3" "unknown" "NG_011557.2" "UD_132118846875" "" "https://www.LOVD.nl/UROS" "" "1" "12592" "7390" "606938" "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/UROS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-11-09 17:13:26" "00000" "2025-11-01 13:22:20" ## 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}}" "00022433" "UROS" "uroporphyrinogen III synthase" "001" "NM_000375.2" "" "NP_000366.1" "" "" "" "-266" "1088" "798" "127511837" "127477147" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02026" "CEP" "porphyria, erythropoietic, congenital (CEP)" "AR" "263700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UROS" "02026" ## 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}}" "00050476" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00132802" "" "" "" "1" "" "00006" "{PMID:Bishop 2010:19965637}" "" "M" "" "United States" ">15y" "0" "" "" "white; Jewish-Ashkenazi" "19965637-Pat3" "00132803" "" "" "" "1" "" "00006" "{PMID:Bishop 2010:19965637}" "" "M" "no" "United States" ">20y" "0" "" "" "white; Jewish-Ashkenazi" "19965637-Pat6" "00132804" "" "" "" "1" "" "00006" "{PMID:Bishop 2010:19965637}" "" "M" "yes" "Switzerland" ">20y" "0" "" "" "Lebanon" "19965637-Pat10" "00290001" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00050476" "00198" "00132802" "02026" "00132803" "02026" "00132804" "02026" "00290001" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02026 ## Count = 4 "{{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}}" "0000037088" "00198" "00050476" "00006" "Unknown" "" "clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth" "" "" "" "" "" "" "" "" "" "" "" "0000105565" "02026" "00132802" "00006" "Familial, autosomal recessive" "15y" "see paper; ..." "00y00m01d" "" "photosensitivity, hepatosplenomegaly, anemia" "" "" "" "" "" "" "" "" "0000105566" "02026" "00132803" "00006" "Familial, autosomal recessive" "20y" "see paper; required red cell transfusions , significant periods during adolescence\r\nwithout treatment, marked cutaneous involvement resulting from unprotected sunlight exposure" "" "" "" "" "" "" "" "" "" "" "" "0000105567" "02026" "00132804" "00006" "Familial, autosomal recessive" "44y" "see paper; chronic, progressive skin ulcerations since adolescence eventually\r\ndisfigured sun-exposed face/hands; moderately anemic, hemoglobins ranging from 10 to 12 g/dL next decade;56y-hemoglobin 8 g/dL, red cell transfusions administered every 3w" "" "20y-30y" "" "" "" "" "" "" "" "" "" ## 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}}" "0000050421" "00050476" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000133636" "00132802" "1" "00006" "00006" "2017-11-09 17:24:50" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133637" "00132803" "1" "00006" "00006" "2017-11-09 17:24:50" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133638" "00132804" "1" "00006" "00006" "2017-11-09 17:24:50" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000291169" "00290001" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000133636" "UROS" "0000133637" "UROS" "0000133638" "UROS" ## 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 = 16 "{{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}}" "0000079401" "0" "90" "10" "123150811" "135380935" "dup" "0" "00006" "ACADSB_000015" "g.123150811_135380935dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000222882" "3" "90" "10" "127477605" "127477605" "subst" "2.52061E-5" "00006" "UROS_000001" "g.127477605A>C" "" "{PMID:Bishop 2010:19965637}" "" "" "normal mRNA transcript 0.10; branchpoint variant" "Germline" "" "" "0" "" "" "g.125789036A>C" "" "pathogenic" "" "0000222883" "3" "90" "10" "127477605" "127477605" "subst" "2.52061E-5" "00006" "UROS_000001" "g.127477605A>C" "" "{PMID:Bishop 2010:19965637}" "" "" "normal mRNA transcript 0.10; branchpoint variant" "Germline" "" "" "0" "" "" "g.125789036A>C" "" "pathogenic" "" "0000222884" "3" "90" "10" "127477605" "127477605" "subst" "2.52061E-5" "00006" "UROS_000001" "g.127477605A>C" "" "{PMID:Bishop 2010:19965637}" "" "" "normal mRNA transcript 0.10; branchpoint variant" "Germline" "" "" "0" "" "" "g.125789036A>C" "" "pathogenic" "" "0000647858" "1" "90" "10" "127477562" "127477562" "subst" "3.72252E-5" "03575" "UROS_000002" "g.127477562C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908020}" "Germline" "" "rs121908020" "0" "" "" "g.125788993C>T" "" "pathogenic" "" "0000678802" "0" "30" "10" "127512219" "127512219" "subst" "0" "01943" "BCCIP_000003" "g.127512219A>T" "" "" "" "BCCIP(NM_078469.2):c.93A>T (p.E31D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678803" "0" "30" "10" "127512283" "127512283" "subst" "4.92283E-5" "01943" "BCCIP_000004" "g.127512283A>G" "" "" "" "BCCIP(NM_078469.2):c.157A>G (p.I53V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804342" "0" "30" "10" "127503703" "127503703" "subst" "0.000109728" "01943" "UROS_000003" "g.127503703C>A" "" "" "" "UROS(NM_001324039.1):c.148-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978940" "0" "50" "10" "127483446" "127483446" "del" "0" "01804" "UROS_000004" "g.127483446del" "" "" "" "UROS(NM_000375.3):c.660+4del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998194" "0" "30" "10" "127477531" "127477531" "subst" "0" "01804" "UROS_000005" "g.127477531T>C" "" "" "" "UROS(NM_000375.2):c.704A>G (p.(Gln235Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998195" "0" "30" "10" "127496038" "127496038" "subst" "0.00829466" "01804" "UROS_000006" "g.127496038T>A" "" "" "" "UROS(NM_000375.2):c.338A>T (p.(Asp113Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037792" "0" "50" "10" "127477450" "127477450" "subst" "3.38914E-5" "01804" "UROS_000007" "g.127477450T>C" "" "" "" "UROS(NM_000375.3):c.785A>G (p.(His262Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037793" "0" "50" "10" "127477546" "127477547" "del" "0" "01804" "UROS_000008" "g.127477546_127477547del" "" "" "" "UROS(NM_000375.3):c.693_694del (p.(Leu232Glyfs*74))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037794" "0" "90" "10" "127500806" "127500806" "subst" "0" "01804" "UROS_000009" "g.127500806A>G" "" "" "" "UROS(NM_000375.3):c.296T>C (p.(Val99Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001053737" "0" "50" "10" "127484674" "127484674" "subst" "5.27876E-5" "01804" "UROS_000010" "g.127484674G>C" "" "" "" "UROS(NM_000375.3):c.559C>G (p.(Gln187Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053738" "0" "50" "10" "127505043" "127505043" "subst" "4.06105E-6" "01804" "UROS_000011" "g.127505043G>T" "" "" "" "UROS(NM_000375.3):c.26C>A (p.(Ala9Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 UROS ## Count = 16 "{{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}}" "0000079401" "00022433" "00" "-7869364" "0" "4327424" "0" "c.-7869364_*4326626dup" "" "" "" "0000222882" "00022433" "90" "661" "-31" "661" "-31" "c.661-31T>G" "r.[660_661ins661-358_661-278, 660_661ins[661-358_661-32;g;661-30_661-1], 660_661ins661-523_661-278]" "p.Phe221fs" "9i" "0000222883" "00022433" "90" "661" "-31" "661" "-31" "c.661-31T>G" "r.[660_661ins661-358_661-278, 660_661ins[661-358_661-32;g;661-30_661-1], 660_661ins661-523_661-278]" "p.Phe221fs" "9i" "0000222884" "00022433" "90" "661" "-31" "661" "-31" "c.661-31T>G" "r.[660_661ins661-358_661-278, 660_661ins[661-358_661-32;g;661-30_661-1], 660_661ins661-523_661-278]" "p.Phe221fs" "9i" "0000647858" "00022433" "90" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Gly225Ser)" "" "0000678802" "00022433" "30" "-648" "0" "-648" "0" "c.-648T>A" "r.(?)" "p.(=)" "" "0000678803" "00022433" "30" "-712" "0" "-712" "0" "c.-712T>C" "r.(?)" "p.(=)" "" "0000804342" "00022433" "30" "148" "-4" "148" "-4" "c.148-4G>T" "r.spl?" "p.?" "" "0000978940" "00022433" "50" "660" "4" "660" "4" "c.660+4del" "r.spl?" "p.?" "" "0000998194" "00022433" "30" "704" "0" "704" "0" "c.704A>G" "r.(?)" "p.(Gln235Arg)" "" "0000998195" "00022433" "30" "338" "0" "338" "0" "c.338A>T" "r.(?)" "p.(Asp113Val)" "" "0001037792" "00022433" "50" "785" "0" "785" "0" "c.785A>G" "r.(?)" "p.(His262Arg)" "" "0001037793" "00022433" "50" "693" "0" "694" "0" "c.693_694del" "r.(?)" "p.(Leu232Glyfs*74)" "" "0001037794" "00022433" "90" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Val99Ala)" "" "0001053737" "00022433" "50" "559" "0" "559" "0" "c.559C>G" "r.(?)" "p.(Gln187Glu)" "" "0001053738" "00022433" "50" "26" "0" "26" "0" "c.26C>A" "r.(?)" "p.(Ala9Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000050421" "0000079401" "0000133636" "0000222882" "0000133637" "0000222883" "0000133638" "0000222884" "0000291169" "0000647858"