### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IDH1)
# 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}}"
"IDH1" "isocitrate dehydrogenase 1 (NADP+), soluble" "2" "q32-qter" "unknown" "LRG_610" "UD_132118546743" "" "https://www.LOVD.nl/IDH1" "" "1" "5382" "3417" "147700" "1" "1" "1" "1" "![](\"docs/Leuven_UCL_logo.png\")
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/IDH1_codingDNA.html" "1" "" "
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases." "-1" "" "-1" "00001" "2013-03-07 00:00:00" "00006" "2018-05-11 17:44:41" "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}}"
"00009781" "IDH1" "isocitrate dehydrogenase 1 (NADP+), soluble" "001" "NM_005896.2" "" "NP_005887.2" "" "" "" "-234" "2095" "1245" "209119806" "209100953" "" "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"
"01347" "GLM1" "glioma, susceptibility, type 1 (GLM1)" "" "137800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-08-30 08:34:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"IDH1" "01347"
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00292551" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00381525" "" "" "" "1" "" "04116" "" "" "M" "no" "" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00292551" "00198"
"00381525" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01347
## Count = 1
"{{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}}"
"0000278364" "00198" "00381525" "04116" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Maffucci Syndrome" ""
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000293719" "00292551" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000382740" "00381525" "1" "04116" "04116" "2021-08-30 01:58:09" "" "" "PCR;PCRdd;SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000382740" "IDH1"
## 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 = 24
"{{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}}"
"0000328065" "0" "10" "2" "209106875" "209106875" "subst" "0.00242058" "01804" "IDH1_000001" "g.209106875A>G" "" "" "" "IDH1(NM_001282386.1):c.699-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208242151A>G" "" "benign" ""
"0000328066" "0" "10" "2" "209113388" "209113388" "subst" "0.00216968" "01804" "IDH1_000002" "g.209113388G>A" "" "" "" "IDH1(NM_001282386.1):c.123-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208248664G>A" "" "benign" ""
"0000341857" "0" "90" "2" "209113112" "209113112" "subst" "0" "02327" "IDH1_000003" "g.209113112C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.208248388C>T" "" "pathogenic" ""
"0000514032" "0" "50" "2" "209104602" "209104602" "subst" "0.000129949" "01804" "IDH1_000005" "g.209104602A>G" "" "" "" "IDH1(NM_005896.2):c.976T>C (p.(Ser326Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208239878A>G" "" "VUS" ""
"0000514033" "0" "30" "2" "209106874" "209106874" "del" "0" "01804" "IDH1_000006" "g.209106874del" "" "" "" "IDH1(NM_005896.4):c.699-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208242150del" "" "likely benign" ""
"0000514034" "0" "50" "2" "209108190" "209108190" "subst" "5.68699E-5" "01804" "IDH1_000007" "g.209108190T>C" "" "" "" "IDH1(NM_005896.2):c.659A>G (p.(Asp220Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208243466T>C" "" "VUS" ""
"0000514035" "0" "10" "2" "209108317" "209108317" "subst" "0.0486078" "01804" "IDH1_000008" "g.209108317C>T" "" "" "" "IDH1(NM_001282386.1):c.532G>A (p.(Val178Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208243593C>T" "" "benign" ""
"0000514037" "0" "90" "2" "209113113" "209113113" "subst" "0" "02327" "IDH1_000010" "g.209113113G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208248389G>A" "" "pathogenic" ""
"0000514038" "0" "50" "2" "209113221" "209113221" "subst" "0" "01804" "IDH1_000011" "g.209113221T>A" "" "" "" "IDH1(NM_005896.2):c.286A>T (p.(Asn96Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208248497T>A" "" "VUS" ""
"0000514040" "0" "30" "2" "209116182" "209116182" "subst" "0.000560561" "01804" "IDH1_000013" "g.209116182A>C" "" "" "" "IDH1(NM_005896.2):c.94T>G (p.(Phe32Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208251458A>C" "" "likely benign" ""
"0000607401" "0" "30" "2" "209108301" "209108301" "subst" "0.00986094" "01804" "IDH1_000015" "g.209108301T>C" "" "" "" "IDH1(NM_001282386.1):c.548A>G (p.(Tyr183Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.208243577T>C" "" "likely benign" ""
"0000650408" "1" "50" "2" "209108301" "209108301" "subst" "0.00986094" "03575" "IDH1_000015" "g.209108301T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 3 heterozygous, no homozygous; {DB:CLININrs34599179}" "Germline" "" "rs34599179" "0" "" "" "g.208243577T>C" "" "VUS" ""
"0000676450" "0" "30" "2" "209116309" "209116309" "dup" "0" "01804" "IDH1_000016" "g.209116309dup" "" "" "" "IDH1(NM_001282386.1):c.-16-9dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000796578" "0" "90" "2" "209113113" "209113113" "subst" "0" "04116" "IDH1_000010" "g.209113113G>A" "" "" "" "" "" "Somatic" "-" "" "0" "" "" "g.208248389G>A" "" "pathogenic" "ACMG"
"0000858249" "0" "50" "2" "209103850" "209103850" "subst" "8.12605E-6" "01804" "IDH1_000017" "g.209103850T>C" "" "" "" "IDH1(NM_005896.2):c.1099A>G (p.(Ile367Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000884698" "0" "50" "2" "209108284" "209108284" "subst" "0.000361439" "01804" "IDH1_000018" "g.209108284T>C" "" "" "" "IDH1(NM_005896.2):c.565A>G (p.(Ile189Val)), IDH1(NM_005896.4):c.565A>G (p.I189V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974878" "0" "50" "2" "209103922" "209103923" "ins" "0" "01804" "IDH1_000019" "g.209103922_209103923insTTATT" "" "" "" "IDH1(NM_005896.4):c.1027_1028insATAAA (p.(Arg343AsnfsTer32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974879" "0" "50" "2" "209103924" "209103925" "ins" "0" "01804" "IDH1_000020" "g.209103924_209103925insTATCAAGCT" "" "" "" "IDH1(NM_005896.4):c.1025_1026insGCTTGATAA (p.(His342delinsGlnLeuAspAsn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974880" "0" "50" "2" "209104646" "209104648" "del" "0" "01804" "IDH1_000021" "g.209104646_209104648del" "" "" "" "IDH1(NM_005896.4):c.930_932del (p.(Thr311del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000992400" "0" "30" "2" "209101893" "209101893" "subst" "0" "01804" "IDH1_000022" "g.209101893A>C" "" "" "" "IDH1(NM_005896.2):c.1155T>G (p.(Asn385Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000992401" "0" "50" "2" "209104710" "209104710" "subst" "0" "01804" "IDH1_000023" "g.209104710T>C" "" "" "" "IDH1(NM_005896.2):c.868A>G (p.(Met290Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001024467" "0" "50" "2" "209108284" "209108284" "subst" "0.000361439" "02325" "IDH1_000018" "g.209108284T>C" "" "" "" "IDH1(NM_005896.2):c.565A>G (p.(Ile189Val)), IDH1(NM_005896.4):c.565A>G (p.I189V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032913" "0" "50" "2" "209104661" "209104661" "subst" "3.24849E-5" "01804" "IDH1_000024" "g.209104661T>G" "" "" "" "IDH1(NM_005896.4):c.917A>C (p.(Glu306Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032914" "0" "50" "2" "209113209" "209113209" "subst" "8.12156E-6" "01804" "IDH1_000025" "g.209113209G>A" "" "" "" "IDH1(NM_005896.4):c.298C>T (p.(Arg100Ter))" "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 IDH1
## Count = 24
"{{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}}"
"0000328065" "00009781" "10" "699" "-6" "699" "-6" "c.699-6T>C" "r.(=)" "p.(=)" ""
"0000328066" "00009781" "10" "123" "-4" "123" "-4" "c.123-4C>T" "r.spl?" "p.?" ""
"0000341857" "00009781" "90" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Arg132His)" ""
"0000514032" "00009781" "50" "976" "0" "976" "0" "c.976T>C" "r.(?)" "p.(Ser326Pro)" ""
"0000514033" "00009781" "30" "699" "-3" "699" "-3" "c.699-3del" "r.spl?" "p.?" ""
"0000514034" "00009781" "50" "659" "0" "659" "0" "c.659A>G" "r.(?)" "p.(Asp220Gly)" ""
"0000514035" "00009781" "10" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Val178Ile)" ""
"0000514037" "00009781" "90" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" ""
"0000514038" "00009781" "50" "286" "0" "286" "0" "c.286A>T" "r.(?)" "p.(Asn96Tyr)" ""
"0000514040" "00009781" "30" "94" "0" "94" "0" "c.94T>G" "r.(?)" "p.(Phe32Val)" ""
"0000607401" "00009781" "30" "548" "0" "548" "0" "c.548A>G" "r.(?)" "p.(Tyr183Cys)" ""
"0000650408" "00009781" "50" "548" "0" "548" "0" "c.548A>G" "r.(?)" "p.(Tyr183Cys)" ""
"0000676450" "00009781" "30" "-16" "-9" "-16" "-9" "c.-16-9dup" "r.(=)" "p.(=)" ""
"0000796578" "00009781" "90" "394" "0" "394" "0" "c.394C>T" "r.(394c>u)" "p.(Arg132Cys)" ""
"0000858249" "00009781" "50" "1099" "0" "1099" "0" "c.1099A>G" "r.(?)" "p.(Ile367Val)" ""
"0000884698" "00009781" "50" "565" "0" "565" "0" "c.565A>G" "r.(?)" "p.(Ile189Val)" ""
"0000974878" "00009781" "50" "1027" "0" "1028" "0" "c.1027_1028insATAAA" "r.(?)" "p.(Arg343Asnfs*32)" ""
"0000974879" "00009781" "50" "1025" "0" "1026" "0" "c.1025_1026insGCTTGATAA" "r.(?)" "p.(His342delinsGlnLeuAspAsn)" ""
"0000974880" "00009781" "50" "930" "0" "932" "0" "c.930_932del" "r.(?)" "p.(Thr311del)" ""
"0000992400" "00009781" "30" "1155" "0" "1155" "0" "c.1155T>G" "r.(?)" "p.(Asn385Lys)" ""
"0000992401" "00009781" "50" "868" "0" "868" "0" "c.868A>G" "r.(?)" "p.(Met290Val)" ""
"0001024467" "00009781" "50" "565" "0" "565" "0" "c.565A>G" "r.(?)" "p.(Ile189Val)" ""
"0001032913" "00009781" "50" "917" "0" "917" "0" "c.917A>C" "r.(?)" "p.(Glu306Ala)" ""
"0001032914" "00009781" "50" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Arg100*)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000293719" "0000650408"
"0000382740" "0000796578"