### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TGM3) # 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}}" "TGM3" "transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)" "20" "q11.2" "unknown" "NG_052959.1" "UD_132438418379" "" "https://www.LOVD.nl/TGM3" "" "1" "11779" "7053" "600238" "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/TGM3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-06-02 15:54:59" "00000" "2025-07-08 13:22:38" ## 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}}" "00000536" "TGM3" "transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)" "001" "NM_003245.3" "" "NP_003236.3" "" "" "" "-97" "2580" "2082" "2276613" "2321725" "00000" "2012-09-13 12:29:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05273" "UHS" "hair, uncombable syndrome (UHS)" "" "" "hair" "" "" "00006" "2017-06-02 10:12:29" "00006" "2021-12-10 21:51:32" "05275" "UHS2" "hair, uncombable syndrome, type 2 (UHS-2)" "AR" "617251" "hair" "" "" "00006" "2017-06-02 10:14:24" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TGM3" "05273" "TGM3" "05275" ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00104880" "" "" "" "1" "" "00006" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}" "" "" "" "Turkey" "" "0" "" "" "" "27866708-Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00104880" "05273" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 05273, 05275 ## 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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000105354" "00104880" "1" "00006" "00006" "2017-06-01 21:27:48" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000105354" "TGM3" ## 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 = 8 "{{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}}" "0000005928" "3" "50" "20" "2315581" "2315581" "subst" "0" "00037" "TGM3_000002" "g.2315581T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.2334935T>C" "" "VUS" "" "0000013879" "3" "50" "20" "2315470" "2315470" "subst" "0" "00037" "TGM3_000004" "g.2315470A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.2334824A>C" "" "VUS" "" "0000013880" "3" "50" "20" "2315567" "2315567" "subst" "0" "00037" "TGM3_000003" "g.2315567T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.2334921T>C" "" "VUS" "" "0000013881" "3" "50" "20" "2315581" "2315581" "subst" "0" "00037" "TGM3_000002" "g.2315581T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.2334935T>C" "" "VUS" "" "0000170692" "3" "90" "20" "2312665" "2312665" "subst" "0" "00006" "TGM3_000001" "g.2312665C>T" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM600238:0001}" "" "" "" "Germline" "" "rs779702016" "0" "" "" "g.2332019C>T" "" "pathogenic" "" "0000569208" "0" "30" "20" "2291722" "2291722" "subst" "0.0263472" "01804" "TGM3_000005" "g.2291722A>C" "" "" "" "TGM3(NM_003245.3):c.487A>C (p.(Ile163Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2311076A>C" "" "likely benign" "" "0001046766" "0" "50" "20" "2320584" "2320584" "subst" "2.44812E-5" "02325" "TGM3_000008" "g.2320584G>A" "" "" "" "TGM3(NM_003245.4):c.1885G>A (p.V629M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046767" "0" "50" "20" "2321111" "2321111" "subst" "0.000497541" "02325" "TGM3_000009" "g.2321111C>T" "" "" "" "TGM3(NM_003245.4):c.1966C>T (p.R656W)" "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 TGM3 ## Count = 8 "{{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}}" "0000005928" "00000536" "50" "1643" "-181" "1643" "-181" "c.1643-181T>C" "r.(=)" "p.(=)" "10i" "0000013879" "00000536" "50" "1643" "-292" "1643" "-292" "c.1643-292A>C" "r.(=)" "p.(=)" "10i" "0000013880" "00000536" "50" "1643" "-195" "1643" "-195" "c.1643-195T>C" "r.(=)" "p.(=)" "10i" "0000013881" "00000536" "50" "1643" "-181" "1643" "-181" "c.1643-181T>C" "r.(=)" "p.(=)" "10i" "0000170692" "00000536" "90" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Gln451*)" "10" "0000569208" "00000536" "30" "487" "0" "487" "0" "c.487A>C" "r.(?)" "p.(Ile163Leu)" "" "0001046766" "00000536" "50" "1885" "0" "1885" "0" "c.1885G>A" "r.(?)" "p.(Val629Met)" "" "0001046767" "00000536" "50" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005928" "0000000210" "0000013879" "0000000210" "0000013880" "0000000210" "0000013881" "0000105354" "0000170692"