### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GGT1) # 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}}" "GGT1" "gamma-glutamyltransferase 1" "22" "q11.23" "unknown" "NG_008111.1" "UD_132118228696" "" "https://www.LOVD.nl/GGT1" "" "1" "4250" "2678" "612346" "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/GGT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-15 12:08:01" "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}}" "00008483" "GGT1" "transcript variant 3" "001" "NM_013430.2" "" "NP_038347.2" "" "" "" "-487" "1876" "1710" "24979718" "25024972" "" "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" "05354" "glutathioninuria" "glutathioninuria (gamma-glutamyltranspeptidase deficiency)" "AR" "231950" "" "autosomal recessive" "" "00006" "2017-12-15 12:09:49" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GGT1" "05354" ## 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}}" "00144461" "" "" "" "2" "" "02344" "{PMID:Darin 2018:29483667}, {DOI:Darin 2018:10.1038/s41431-018-0122-6}" "" "M" "?" "Sweden" ">15y" "0" "" "" "Turkish ancestry" "" "00263434" "" "" "" "1" "" "01331" "" "" "-" "no" "Italy" "" "0" "" "" "" "GGTemia_Fam.1" "00263435" "" "" "" "1" "" "01331" "" "" "-" "no" "Slovakia (Slovak Republic)" "" "0" "" "" "" "GGTemia_Fam.2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00144461" "05354" "00263434" "00198" "00263435" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05354 ## Count = 3 "{{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}}" "0000117242" "05354" "00144461" "02344" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201790" "00198" "00263434" "01331" "Unknown" "" "benign, isolated, highly elevated plasma GGT (GGTemia)" "" "" "" "" "" "" "" "" "" "GGTemia" "" "0000201791" "00198" "00263435" "01331" "Familial, autosomal recessive" "" "benign, isolated, highly elevated plasma GGT (GGTemia)" "" "" "" "" "" "" "" "" "" "GGTemia" "" ## 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}}" "0000145318" "00144461" "1" "02344" "02344" "2017-12-15 09:57:00" "" "" "SEQ-NG-I" "DNA" "Blood" "WGS" "0000264545" "00263434" "1" "01331" "01331" "2019-08-29 20:37:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000264546" "00263435" "1" "01331" "01331" "2019-08-29 20:58:16" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000145318" "GGT1" ## 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 = 17 "{{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}}" "0000236419" "3" "90" "22" "24992587" "25009579" "del" "0" "02344" "GGT1_000001" "g.24992587_25009579delinsGCCTGTAATCCCA" "" "{PMID:Darin 2018:29483667}, {DOI:Darin 2018:10.1038/s41431-018-0122-6}" "" "" "" "Germline" "yes" "" "0" "" "" "g.24596620_24613612delinsGCCTGTAATCCCA" "" "pathogenic (recessive)" "" "0000571589" "0" "30" "22" "25019761" "25019761" "subst" "0.000263875" "01943" "FAM211B_000001" "g.25019761C>T" "" "" "" "GGT1(NM_001288833.2):c.898C>T (p.R300W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24623794C>T" "" "likely benign" "" "0000571590" "0" "30" "22" "25023406" "25023406" "subst" "0.000666095" "01804" "FAM211B_000002" "g.25023406G>A" "" "" "" "GGT1(NM_001032364.2):c.1028G>A (p.(Arg343His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24627439G>A" "" "likely benign" "" "0000571591" "0" "50" "22" "25023564" "25023564" "subst" "0" "01943" "FAM211B_000003" "g.25023564G>A" "" "" "" "GGT1(NM_001288833.1):c.1186G>A (p.(Ala396Thr)), GGT1(NM_001288833.2):c.1186G>A (p.A396T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24627597G>A" "" "VUS" "" "0000571592" "0" "50" "22" "25024045" "25024045" "subst" "0.000540218" "01943" "FAM211B_000004" "g.25024045C>T" "" "" "" "GGT1(NM_001288833.2):c.1337-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24628078C>T" "" "VUS" "" "0000571593" "0" "30" "22" "25024108" "25024108" "subst" "0.00192843" "01943" "FAM211B_000005" "g.25024108G>A" "" "" "" "GGT1(NM_001288833.2):c.1397G>A (p.R466Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24628141G>A" "" "likely benign" "" "0000595120" "3" "90" "22" "25007092" "25007092" "subst" "0" "01331" "GGT1_000002" "g.25007092T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.24611125T>G" "" "pathogenic" "" "0000595121" "3" "90" "22" "25007076" "25007102" "del" "0" "01331" "GGT1_000003" "g.25007076_25007102del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.24611109_24611135del" "" "pathogenic (recessive)" "" "0000618504" "0" "30" "22" "25023893" "25023893" "subst" "0" "01804" "FAM211B_000007" "g.25023893G>A" "" "" "" "GGT1(NM_001032364.2):c.1283G>A (p.(Ser428Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24627926G>A" "" "likely benign" "" "0000693125" "0" "30" "22" "25010754" "25010754" "subst" "1.63277E-5" "01943" "FAM211B_000008" "g.25010754G>A" "" "" "" "GGT1(NM_001288833.2):c.176G>A (p.R59Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866750" "0" "30" "22" "25016462" "25016462" "subst" "0" "01943" "FAM211B_000009" "g.25016462G>A" "" "" "" "GGT1(NM_001288833.2):c.550G>A (p.V184I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915496" "0" "50" "22" "25011088" "25011088" "subst" "0" "02327" "FAM211B_000010" "g.25011088C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984142" "0" "50" "22" "25007181" "25007181" "subst" "4.9506E-5" "01804" "FAM211B_000017" "g.25007181G>A" "" "" "" "GGT1(NM_001288833.2):c.133G>A (p.(Ala45Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984143" "0" "30" "22" "25007202" "25007202" "subst" "0.00238237" "01804" "FAM211B_000018" "g.25007202A>G" "" "" "" "GGT1(NM_001288833.2):c.154A>G (p.(Lys52Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005960" "0" "30" "22" "25016960" "25016960" "subst" "0.00012701" "01804" "FAM211B_000019" "g.25016960C>T" "" "" "" "GGT1(NM_001288833.1):c.656C>T (p.(Thr219Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005961" "0" "50" "22" "25023564" "25023564" "subst" "0" "01804" "FAM211B_000003" "g.25023564G>A" "" "" "" "GGT1(NM_001288833.1):c.1186G>A (p.(Ala396Thr)), GGT1(NM_001288833.2):c.1186G>A (p.A396T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043762" "0" "50" "22" "25023505" "25023505" "subst" "0.000159268" "01804" "FAM211B_000020" "g.25023505C>T" "" "" "" "GGT1(NM_001288833.2):c.1127C>T (p.(Pro376Leu))" "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 GGT1 ## Count = 17 "{{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}}" "0000236419" "00008483" "90" "-428" "-11334" "165" "-1164" "c.-428-11334_165-1164delinsGCCTGTAATCCCA" "r.0?" "p.0?" "1i_5i" "0000571589" "00008483" "30" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Arg300Trp)" "" "0000571590" "00008483" "30" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343His)" "" "0000571591" "00008483" "50" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Ala396Thr)" "" "0000571592" "00008483" "50" "1337" "-3" "1337" "-3" "c.1337-3C>T" "r.spl?" "p.?" "" "0000571593" "00008483" "30" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Arg466Gln)" "" "0000595120" "00008483" "90" "44" "0" "44" "0" "c.44T>G" "r.(?)" "p.(Leu15Arg)" "6" "0000595121" "00008483" "90" "28" "0" "54" "0" "c.28_54del" "r.(?)" "p.(Leu10_Val18del)" "6" "0000618504" "00008483" "30" "1283" "0" "1283" "0" "c.1283G>A" "r.(?)" "p.(Ser428Asn)" "" "0000693125" "00008483" "30" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59Gln)" "" "0000866750" "00008483" "30" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Val184Ile)" "" "0000915496" "00008483" "50" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Gln126*)" "" "0000984142" "00008483" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" "" "0000984143" "00008483" "30" "154" "0" "154" "0" "c.154A>G" "r.(?)" "p.(Lys52Glu)" "" "0001005960" "00008483" "30" "656" "0" "656" "0" "c.656C>T" "r.(?)" "p.(Thr219Met)" "" "0001005961" "00008483" "50" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Ala396Thr)" "" "0001043762" "00008483" "50" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Pro376Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000145318" "0000236419" "0000264545" "0000595120" "0000264546" "0000595121"