### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UGDH) # 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}}" "UGDH" "UDP-glucose 6-dehydrogenase" "4" "p14" "unknown" "NC_000004.11" "UD_132439589520" "" "https://www.LOVD.nl/UGDH" "" "1" "12525" "7358" "603370" "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/UGDH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-27 11:37:42" "00000" "2025-05-05 21:14:00" ## 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}}" "00022333" "UGDH" "transcript variant 1" "003" "NM_003359.3" "" "NP_003350.1" "" "" "" "-323" "2872" "1485" "39529218" "39500376" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05758" "EIEE84" "encephalopathy, epileptic, early infantile, type 84 (EIEE84)" "AR" "618792" "" "" "" "00006" "2020-05-26 13:22:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "UGDH" "00344" "UGDH" "05758" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00276091" "" "" "" "1" "" "03566" "{PMID:Alhamoudi 2020:32175296}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "05y" "0" "" "" "saudi" "PatII2" "00426165" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "10MS9600" "00442132" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04597" "" "" "M" "yes" "(Saudi Arabia)" "" "" "" "" "" "DMD-UGDH-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00276091" "05162" "00426165" "00139" "00426165" "00385" "00442132" "05758" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00344, 00385, 05162, 05758 ## Count = 4 "{{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}}" "0000229686" "05162" "00276091" "00006" "Familial, autosomal recessive" "05y" "see paper; ..." "" "" "" "" "" "" "" "EIEE84" "developmental delay" "0000317315" "00139" "00426165" "00006" "Familial, autosomal recessive" "7y" "" "" "" "" "" "" "" "" "DEE84" "intellectual disability" "0000317355" "00385" "00426165" "00006" "Familial, autosomal recessive" "07y" "" "" "" "" "" "" "" "" "DAIPT" "arthrogryposis" "0000332786" "05758" "00442132" "04597" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000277236" "00276091" "1" "03566" "03566" "2020-01-27 09:26:35" "" "" "SEQ-NG" "DNA" "" "" "0000427485" "00426165" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444935" "00442132" "1" "04597" "04597" "2023-11-27 08:55:59" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000444935" "UGDH" ## 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 = 27 "{{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}}" "0000252088" "0" "30" "4" "39501740" "39501740" "del" "0" "02326" "UGDH_000001" "g.39501740del" "" "" "" "UGDH(NM_003359.4):c.*40delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39500120del" "" "likely benign" "" "0000342620" "0" "50" "4" "39507325" "39507325" "subst" "4.89333E-5" "02327" "UGDH_000004" "g.39507325C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39505705C>T" "" "VUS" "" "0000344577" "0" "50" "4" "39512283" "39512283" "subst" "4.06134E-6" "02327" "UGDH_000005" "g.39512283G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39510663G>A" "" "VUS" "" "0000346478" "0" "50" "4" "39505523" "39505523" "subst" "0" "02327" "UGDH_000002" "g.39505523T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39503903T>C" "" "VUS" "" "0000346728" "0" "50" "4" "39523008" "39523008" "subst" "0" "02327" "UGDH_000006" "g.39523008A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39521388A>G" "" "VUS" "" "0000350054" "0" "50" "4" "39506960" "39506960" "subst" "0" "02327" "UGDH_000003" "g.39506960A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39505340A>C" "" "VUS" "" "0000522564" "0" "50" "4" "39505541" "39505541" "subst" "0" "01943" "UGDH_000007" "g.39505541C>T" "" "" "" "UGDH(NM_003359.4):c.1328G>A (p.R443H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39503921C>T" "" "VUS" "" "0000522565" "0" "30" "4" "39507007" "39507007" "dup" "0" "02326" "UGDH_000008" "g.39507007dup" "" "" "" "UGDH(NM_003359.4):c.1038-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39505387dup" "" "likely benign" "" "0000522566" "0" "50" "4" "39507368" "39507368" "subst" "0" "01943" "UGDH_000009" "g.39507368C>T" "" "" "" "UGDH(NM_003359.4):c.907G>A (p.V303I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39505748C>T" "" "VUS" "" "0000522567" "0" "10" "4" "39511542" "39511542" "dup" "0" "02326" "UGDH_000010" "g.39511542dup" "" "" "" "UGDH(NM_003359.4):c.664-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39509922dup" "" "benign" "" "0000632002" "3" "90" "4" "39507325" "39507325" "subst" "4.89333E-5" "03566" "UGDH_000004" "g.39507325C>T" "" "{PMID:Alhamoudi 2020:32175296}" "" "" "" "Germline" "" "" "0" "" "" "g.39505705C>T" "" "pathogenic (recessive)" "" "0000677276" "0" "30" "4" "39523034" "39523034" "subst" "0.000150522" "02326" "UGDH_000011" "g.39523034C>T" "" "" "" "UGDH(NM_003359.4):c.99G>A (p.T33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689299" "0" "10" "4" "39511542" "39511542" "del" "0" "02326" "UGDH_000012" "g.39511542del" "" "" "" "UGDH(NM_003359.4):c.664-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689300" "0" "50" "4" "39515779" "39515779" "subst" "0" "01943" "UGDH_000013" "g.39515779G>A" "" "" "" "UGDH(NM_003359.4):c.188C>T (p.S63F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719911" "0" "50" "4" "39501800" "39501800" "subst" "1.62837E-5" "01943" "UGDH_000014" "g.39501800C>T" "" "" "" "UGDH(NM_003359.4):c.1448G>A (p.S483N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719912" "0" "30" "4" "39511399" "39511399" "subst" "0.000114493" "02326" "UGDH_000015" "g.39511399C>T" "" "" "" "UGDH(NM_003359.4):c.792G>A (p.K264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801644" "0" "30" "4" "39506138" "39506138" "subst" "1.23314E-5" "01943" "UGDH_000016" "g.39506138T>C" "" "" "" "UGDH(NM_003359.4):c.1172-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801645" "0" "30" "4" "39511399" "39511399" "subst" "0.000114493" "01943" "UGDH_000015" "g.39511399C>T" "" "" "" "UGDH(NM_003359.4):c.792G>A (p.K264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801646" "0" "30" "4" "39512147" "39512147" "subst" "0" "01943" "UGDH_000017" "g.39512147C>T" "" "" "" "UGDH(NM_003359.4):c.489G>A (p.L163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850606" "0" "30" "4" "39506885" "39506885" "subst" "0" "01943" "UGDH_000018" "g.39506885A>G" "" "" "" "UGDH(NM_003359.4):c.1143T>C (p.S381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850607" "0" "90" "4" "39515774" "39515774" "subst" "7.42577E-5" "01943" "UGDH_000019" "g.39515774G>A" "" "" "" "UGDH(NM_003359.4):c.193C>T (p.R65*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886281" "0" "50" "4" "39512375" "39512375" "subst" "0" "02327" "UGDH_000020" "g.39512375T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886282" "0" "50" "4" "39522978" "39522978" "subst" "0" "02327" "UGDH_000021" "g.39522978A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904845" "3" "70" "4" "39512349" "39512349" "subst" "0" "00006" "UGDH_000022" "g.39512349G>T" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.39510729G>T" "" "likely pathogenic (recessive)" "" "0000946886" "3" "90" "4" "39507325" "39507325" "subst" "4.89333E-5" "04597" "UGDH_000004" "g.39507325C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.39505705C>T" "" "VUS" "ACMG" "0001034552" "0" "70" "4" "39505545" "39505545" "subst" "4.06187E-6" "01804" "UGDH_000023" "g.39505545G>A" "" "" "" "UGDH(NM_003359.4):c.1324C>T (p.(Arg442Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034553" "0" "50" "4" "39505562" "39505562" "subst" "0" "01804" "UGDH_000024" "g.39505562G>C" "" "" "" "UGDH(NM_003359.4):c.1307C>G (p.(Ala436Gly))" "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 UGDH ## Count = 27 "{{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}}" "0000252088" "00022333" "30" "1525" "0" "1525" "0" "c.*40del" "r.(?)" "p.(=)" "" "0000342620" "00022333" "50" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Arg317Gln)" "" "0000344577" "00022333" "50" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Gln155Ter)" "" "0000346478" "00022333" "50" "1346" "0" "1346" "0" "c.1346A>G" "r.(?)" "p.(His449Arg)" "" "0000346728" "00022333" "50" "125" "0" "125" "0" "c.125T>C" "r.(?)" "p.(Ile42Thr)" "" "0000350054" "00022333" "50" "1068" "0" "1068" "0" "c.1068T>G" "r.(?)" "p.(Tyr356Ter)" "" "0000522564" "00022333" "50" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443His)" "" "0000522565" "00022333" "30" "1038" "-8" "1038" "-8" "c.1038-8dup" "r.(=)" "p.(=)" "" "0000522566" "00022333" "50" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Val303Ile)" "" "0000522567" "00022333" "10" "664" "-4" "664" "-4" "c.664-4dup" "r.spl?" "p.?" "" "0000632002" "00022333" "90" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Arg317Gln)" "8" "0000677276" "00022333" "30" "99" "0" "99" "0" "c.99G>A" "r.(?)" "p.(Thr33=)" "" "0000689299" "00022333" "10" "664" "-4" "664" "-4" "c.664-4del" "r.spl?" "p.?" "" "0000689300" "00022333" "50" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ser63Phe)" "" "0000719911" "00022333" "50" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Ser483Asn)" "" "0000719912" "00022333" "30" "792" "0" "792" "0" "c.792G>A" "r.(?)" "p.(Lys264=)" "" "0000801644" "00022333" "30" "1172" "-10" "1172" "-10" "c.1172-10A>G" "r.(=)" "p.(=)" "" "0000801645" "00022333" "30" "792" "0" "792" "0" "c.792G>A" "r.(?)" "p.(Lys264=)" "" "0000801646" "00022333" "30" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(Leu163=)" "" "0000850606" "00022333" "30" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(Ser381=)" "" "0000850607" "00022333" "90" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Arg65*)" "" "0000886281" "00022333" "50" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Lys124Arg)" "" "0000886282" "00022333" "50" "155" "0" "155" "0" "c.155T>C" "r.(?)" "p.(Ile52Thr)" "" "0000904845" "00022333" "70" "397" "0" "397" "0" "c.397C>A" "r.(?)" "p.(Pro133Thr)" "" "0000946886" "00022333" "90" "950" "0" "950" "0" "c.950G>A" "r.?" "p.?" "8" "0001034552" "00022333" "70" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Arg442Trp)" "" "0001034553" "00022333" "50" "1307" "0" "1307" "0" "c.1307C>G" "r.(?)" "p.(Ala436Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000277236" "0000632002" "0000427485" "0000904845" "0000444935" "0000946886"