### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GTPBP3) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "GTPBP3" "GTP binding protein 3 (mitochondrial)" "19" "p13.2" "unknown" "NC_000019.9" "UD_138305682430" "" "" "" "1" "1" "14880" "84705" "608536" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 15:27:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "{{iNote}}" "{{chrom}}" "00002000" "GTPBP3" "transcript variant X1" "001" "XM_005260120.1" "" "XP_005260177.1" "" "" "" "-78" "2669" "1641" "17445735" "17453540" "00001" "2013-11-15 15:31:51" "" "" "" "19" "00002001" "GTPBP3" "transcript variant X2" "002" "XM_005260121.1" "" "XP_005260178.1" "" "" "" "-78" "2606" "1578" "17445735" "17453540" "00001" "2013-11-15 15:31:51" "" "" "" "19" "00002002" "GTPBP3" "transcript variant X3" "003" "XM_005260122.1" "" "XP_005260179.1" "" "" "" "-78" "2510" "1482" "17445735" "17453540" "00001" "2013-11-15 15:31:51" "" "" "" "19" "00002003" "GTPBP3" "transcript variant VII" "004" "NM_001195422.1" "" "NP_001182351.1" "" "" "" "-22" "2573" "1545" "17445791" "17453540" "00001" "2013-11-15 15:31:51" "" "" "" "19" "00002004" "GTPBP3" "transcript variant IV" "005" "NM_133644.3" "" "NP_598399.2" "" "" "" "-95" "2603" "1575" "17448326" "17453540" "00001" "2013-11-15 15:31:51" "" "" "" "19" "00002005" "GTPBP3" "transcript variant V" "006" "NM_032620.3" "" "NP_116009.2" "" "" "" "-95" "2507" "1479" "17448326" "17453540" "00001" "2013-11-15 15:31:51" "" "" "" "19" "00002006" "GTPBP3" "transcript variant III" "007" "NM_001128855.2" "" "NP_001122327.1" "" "" "" "-95" "2444" "1416" "17448326" "17453540" "00001" "2013-11-15 15:31:51" "" "" "" "19" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00516" "616198" "Combined oxidative phosphorylation deficiency 23, 616198 (3)" "616198" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GTPBP3" "00516" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 10 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000018599" "0" "99" "19" "17448452" "17448453" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:54:09" "GTPBP3_000010" "g.17448452_17448453delinsGTG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018599" "" "0000018600" "0" "77" "19" "17449399" "17449399" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:46:00" "GTPBP3_000007" "g.17449399C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018600" "" "0000018601" "0" "99" "19" "17449435" "17449435" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-02-26 19:16:09" "GTPBP3_000008" "g.17449435A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018601" "" "0000018602" "0" "77" "19" "17449476" "17449476" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:46:13" "GTPBP3_000009" "g.17449476C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018602" "" "0000018603" "0" "99" "19" "17449814" "17449814" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:32:24" "GTPBP3_000005" "g.17449814G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018603" "" "0000018604" "0" "99" "19" "17450398" "17450398" "subst" "35" "0.0000777726" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:32:31" "GTPBP3_000006" "g.17450398G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018604" "" "0000018605" "0" "99" "19" "17451887" "17451887" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:28" "GTPBP3_000001" "g.17451887G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018605" "" "0000018606" "0" "77" "19" "17451990" "17451990" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:34" "GTPBP3_000002" "g.17451990T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018606" "" "0000018607" "0" "00" "19" "17452321" "17452322" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 16:47:12" "GTPBP3_000003" "g.17452321_17452322insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018607" "" "0000018608" "0" "99" "19" "17452408" "17452408" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:47" "GTPBP3_000004" "g.17452408G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018608" "" ## 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. ## Count = 70 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000018599" "00002000" "00" "120" "-365" "120" "-364" "c.120-365_120-364delinsGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018599" "00002001" "00" "120" "-365" "120" "-364" "c.120-365_120-364delinsGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018599" "00002002" "00" "120" "-365" "120" "-364" "c.120-365_120-364delinsGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018599" "00002003" "00" "120" "-365" "120" "-364" "c.120-365_120-364delinsGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018599" "00002004" "00" "32" "0" "33" "0" "c.32_33delinsGTG" "" "p.(Gln11Argfs*98)" "r.(?)" "" "" "" "" "" "-" "0000018599" "00002005" "00" "32" "0" "33" "0" "c.32_33delinsGTG" "" "p.(Gln11Argfs*98)" "r.(?)" "" "" "" "" "" "-" "0000018599" "00002006" "00" "32" "0" "33" "0" "c.32_33delinsGTG" "" "p.(Gln11Argfs*98)" "r.(?)" "" "" "" "" "" "-" "0000018600" "00002000" "00" "506" "0" "506" "0" "c.506C>T" "" "p.(Ala169Val)" "r.(?)" "" "" "" "" "" "-" "0000018600" "00002001" "00" "506" "0" "506" "0" "c.506C>T" "" "p.(Ala169Val)" "r.(?)" "" "" "" "" "" "-" "0000018600" "00002002" "00" "506" "0" "506" "0" "c.506C>T" "" "p.(Ala169Val)" "r.(?)" "" "" "" "" "" "-" "0000018600" "00002003" "00" "506" "0" "506" "0" "c.506C>T" "" "p.(Ala169Val)" "r.(?)" "" "" "" "" "" "-" "0000018600" "00002004" "00" "440" "0" "440" "0" "c.440C>T" "" "p.(Ala147Val)" "r.(?)" "" "" "" "" "" "-" "0000018600" "00002005" "00" "440" "0" "440" "0" "c.440C>T" "" "p.(Ala147Val)" "r.(?)" "" "" "" "" "" "-" "0000018600" "00002006" "00" "440" "0" "440" "0" "c.440C>T" "" "p.(Ala147Val)" "r.(?)" "" "" "" "" "" "-" "0000018601" "00002000" "00" "542" "0" "542" "0" "c.542A>T" "" "p.(Glu181Val)" "r.(?)" "" "" "" "" "" "-" "0000018601" "00002001" "00" "542" "0" "542" "0" "c.542A>T" "" "p.(Glu181Val)" "r.(?)" "" "" "" "" "" "-" "0000018601" "00002002" "00" "542" "0" "542" "0" "c.542A>T" "" "p.(Glu181Val)" "r.(?)" "" "" "" "" "" "-" "0000018601" "00002003" "00" "542" "0" "542" "0" "c.542A>T" "" "p.(Glu181Val)" "r.(?)" "" "" "" "" "" "-" "0000018601" "00002004" "00" "476" "0" "476" "0" "c.476A>T" "" "p.(Glu159Val)" "r.(?)" "" "" "" "" "" "-" "0000018601" "00002005" "00" "476" "0" "476" "0" "c.476A>T" "" "p.(Glu159Val)" "r.(?)" "" "" "" "" "" "-" "0000018601" "00002006" "00" "476" "0" "476" "0" "c.476A>T" "" "p.(Glu159Val)" "r.(?)" "" "" "" "" "" "-" "0000018602" "00002000" "00" "583" "0" "583" "0" "c.583C>T" "" "p.(Arg195Trp)" "r.(?)" "" "" "" "" "" "-" "0000018602" "00002001" "00" "583" "0" "583" "0" "c.583C>T" "" "p.(Arg195Trp)" "r.(?)" "" "" "" "" "" "-" "0000018602" "00002002" "00" "583" "0" "583" "0" "c.583C>T" "" "p.(Arg195Trp)" "r.(?)" "" "" "" "" "" "-" "0000018602" "00002003" "00" "583" "0" "583" "0" "c.583C>T" "" "p.(Arg195Trp)" "r.(?)" "" "" "" "" "" "-" "0000018602" "00002004" "00" "517" "0" "517" "0" "c.517C>T" "" "p.(Arg173Trp)" "r.(?)" "" "" "" "" "" "-" "0000018602" "00002005" "00" "517" "0" "517" "0" "c.517C>T" "" "p.(Arg173Trp)" "r.(?)" "" "" "" "" "" "-" "0000018602" "00002006" "00" "517" "0" "517" "0" "c.517C>T" "" "p.(Arg173Trp)" "r.(?)" "" "" "" "" "" "-" "0000018603" "00002000" "00" "709" "0" "709" "0" "c.709G>T" "" "p.(Glu237*)" "r.(?)" "" "" "" "" "" "-" "0000018603" "00002001" "00" "709" "0" "709" "0" "c.709G>T" "" "p.(Glu237*)" "r.(?)" "" "" "" "" "" "-" "0000018603" "00002002" "00" "709" "0" "709" "0" "c.709G>T" "" "p.(Glu237*)" "r.(?)" "" "" "" "" "" "-" "0000018603" "00002003" "00" "709" "0" "709" "0" "c.709G>T" "" "p.(Glu237*)" "r.(?)" "" "" "" "" "" "-" "0000018603" "00002004" "00" "643" "0" "643" "0" "c.643G>T" "" "p.(Glu215*)" "r.(?)" "" "" "" "" "" "-" "0000018603" "00002005" "00" "643" "0" "643" "0" "c.643G>T" "" "p.(Glu215*)" "r.(?)" "" "" "" "" "" "-" "0000018603" "00002006" "00" "643" "0" "643" "0" "c.643G>T" "" "p.(Glu215*)" "r.(?)" "" "" "" "" "" "-" "0000018604" "00002000" "00" "1126" "0" "1126" "0" "c.1126G>C" "" "p.(Ala376Pro)" "r.(?)" "" "" "" "" "" "-" "0000018604" "00002001" "00" "1126" "0" "1126" "0" "c.1126G>C" "" "p.(Ala376Pro)" "r.(?)" "" "" "" "" "" "-" "0000018604" "00002002" "00" "1030" "0" "1030" "0" "c.1030G>C" "" "p.(Ala344Pro)" "r.(?)" "" "" "" "" "" "-" "0000018604" "00002003" "00" "1030" "0" "1030" "0" "c.1030G>C" "" "p.(Ala344Pro)" "r.(?)" "" "" "" "" "" "-" "0000018604" "00002004" "00" "1060" "0" "1060" "0" "c.1060G>C" "" "p.(Ala354Pro)" "r.(?)" "" "" "" "" "" "-" "0000018604" "00002005" "00" "964" "0" "964" "0" "c.964G>C" "" "p.(Ala322Pro)" "r.(?)" "" "" "" "" "" "-" "0000018604" "00002006" "00" "964" "0" "964" "0" "c.964G>C" "" "p.(Ala322Pro)" "r.(?)" "" "" "" "" "" "-" "0000018605" "00002000" "00" "1171" "0" "1171" "0" "c.1171G>C" "" "p.(Asp391His)" "r.(?)" "" "" "" "" "" "-" "0000018605" "00002001" "00" "1137" "-29" "1137" "-29" "c.1137-29G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018605" "00002002" "00" "1041" "-29" "1041" "-29" "c.1041-29G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018605" "00002003" "00" "1075" "0" "1075" "0" "c.1075G>C" "" "p.(Asp359His)" "r.(?)" "" "" "" "" "" "-" "0000018605" "00002004" "00" "1105" "0" "1105" "0" "c.1105G>C" "" "p.(Asp369His)" "r.(?)" "" "" "" "" "" "-" "0000018605" "00002005" "00" "1009" "0" "1009" "0" "c.1009G>C" "" "p.(Asp337His)" "r.(?)" "" "" "" "" "" "-" "0000018605" "00002006" "00" "975" "-29" "975" "-29" "c.975-29G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018606" "00002000" "00" "1274" "0" "1274" "0" "c.1274T>C" "" "p.(Leu425Pro)" "r.(?)" "" "" "" "" "" "-" "0000018606" "00002001" "00" "1211" "0" "1211" "0" "c.1211T>C" "" "p.(Leu404Pro)" "r.(?)" "" "" "" "" "" "-" "0000018606" "00002002" "00" "1115" "0" "1115" "0" "c.1115T>C" "" "p.(Leu372Pro)" "r.(?)" "" "" "" "" "" "-" "0000018606" "00002003" "00" "1178" "0" "1178" "0" "c.1178T>C" "" "p.(Leu393Pro)" "r.(?)" "" "" "" "" "" "-" "0000018606" "00002004" "00" "1208" "0" "1208" "0" "c.1208T>C" "" "p.(Leu403Pro)" "r.(?)" "" "" "" "" "" "-" "0000018606" "00002005" "00" "1112" "0" "1112" "0" "c.1112T>C" "" "p.(Leu371Pro)" "r.(?)" "" "" "" "" "" "-" "0000018606" "00002006" "00" "1049" "0" "1049" "0" "c.1049T>C" "" "p.(Leu350Pro)" "r.(?)" "" "" "" "" "" "-" "0000018607" "00002000" "00" "1450" "0" "1451" "0" "c.1450_1451insC" "" "p.(Arg485Profs*87)" "r.(?)" "" "" "" "" "" "-" "0000018607" "00002001" "00" "1387" "0" "1388" "0" "c.1387_1388insC" "" "p.(Arg464Profs*87)" "r.(?)" "" "" "" "" "" "-" "0000018607" "00002002" "00" "1291" "0" "1292" "0" "c.1291_1292insC" "" "p.(Arg432Profs*87)" "r.(?)" "" "" "" "" "" "-" "0000018607" "00002003" "00" "1354" "0" "1355" "0" "c.1354_1355insC" "" "p.(Arg453Profs*87)" "r.(?)" "" "" "" "" "" "-" "0000018607" "00002004" "00" "1384" "0" "1385" "0" "c.1384_1385insC" "" "p.(Arg463Profs*87)" "r.(?)" "" "" "" "" "" "-" "0000018607" "00002005" "00" "1288" "0" "1289" "0" "c.1288_1289insC" "" "p.(Arg431Profs*87)" "r.(?)" "" "" "" "" "" "-" "0000018607" "00002006" "00" "1225" "0" "1226" "0" "c.1225_1226insC" "" "p.(Arg410Profs*87)" "r.(?)" "" "" "" "" "" "-" "0000018608" "00002000" "00" "1537" "0" "1537" "0" "c.1537G>A" "" "p.(Glu513Lys)" "r.(?)" "" "" "" "" "" "-" "0000018608" "00002001" "00" "1474" "0" "1474" "0" "c.1474G>A" "" "p.(Glu492Lys)" "r.(?)" "" "" "" "" "" "-" "0000018608" "00002002" "00" "1378" "0" "1378" "0" "c.1378G>A" "" "p.(Glu460Lys)" "r.(?)" "" "" "" "" "" "-" "0000018608" "00002003" "00" "1441" "0" "1441" "0" "c.1441G>A" "" "p.(Glu481Lys)" "r.(?)" "" "" "" "" "" "-" "0000018608" "00002004" "00" "1471" "0" "1471" "0" "c.1471G>A" "" "p.(Glu491Lys)" "r.(?)" "" "" "" "" "" "-" "0000018608" "00002005" "00" "1375" "0" "1375" "0" "c.1375G>A" "" "p.(Glu459Lys)" "r.(?)" "" "" "" "" "" "-" "0000018608" "00002006" "00" "1312" "0" "1312" "0" "c.1312G>A" "" "p.(Glu438Lys)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0