### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OTC) # 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}}" "OTC" "ornithine transcarbamylase" "X" "p11.4" "unknown" "NG_008471.1" "UD_144430078329" "" "" "" "1" "8512" "5009" "300461" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-11-22 10:41:17" "" "" "00005" "2021-09-13 11:38:12" ## 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}}" "00000040" "OTC" "ornithine carbamoyltransferase" "001" "NM_000531.5" "" "NP_000522.3" "" "" "" "-214" "1433" "1065" "38352483" "38421450" "00001" "2020-11-22 10:42:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025" "OTCD" "Ornithine transcarbamylase deficiency" "" "" "" "" "" "00001" "2020-11-22 10:40:55" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "OTC" "00025" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000173" "" "" "" "1" "" "00002" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}" "" "" "Malaysia" "" "" "M" "00000174" "" "" "" "1" "" "00002" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}" "" "" "Malaysia" "" "" "F" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00000173" "00025" "00000174" "00025" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00025 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000084" "00025" "00000173" "00002" "" "Familial, X-linked recessive" "0000000085" "00025" "00000174" "00002" "" "Familial, X-linked recessive" ## 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}}" "0000000188" "00000173" "1" "00002" "00002" "2020-11-22 11:07:21" "" "" "PCR;SEQ" "DNA" "0000000189" "00000174" "1" "00002" "00002" "2020-11-22 12:11:15" "" "" "PCR;SEQ" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000000188" "OTC" "0000000189" "OTC" ## 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 = 15 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000000827" "0" "90" "X" "38401401" "38401401" "subst" "0" "00002" "OTC_000001" "g.38401401G>T" "1/11" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}" "" "" "rs12562058" "0000000828" "0" "90" "X" "38367346" "38367346" "subst" "0" "00002" "OTC_000002" "g.38367346C>G" "1/11" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}, {dbSNP:rs72554311}, {ClinVar:97110}" "" "" "rs72554311" "0000000829" "0" "90" "X" "38381342" "38381342" "subst" "0" "00002" "OTC_000003" "g.38381342G>A" "1/11" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}, {dbSNP:rs72554349}, {ClinVar:97163}" "" "" "rs72554349" "0000000830" "0" "90" "X" "38369865" "38369865" "subst" "0" "00002" "OTC_000004" "g.38369865T>C" "1/11" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}, {ClinVar:959988}" "" "" "" "0000000831" "0" "90" "X" "38403672" "38403672" "subst" "0" "00002" "OTC_000005" "g.38403672A>G" "1/11" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}, {dbSNP:rs72558405}, {ClinVar:97264}" "" "" "rs72558405" "0000000832" "0" "90" "X" "38403660" "38403660" "subst" "0" "00002" "OTC_000006" "g.38403660G>A" "1/11" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}, {dbSNP:rs67294955}, {ClinVar:97255}" "" "" "rs67294955" "0000000833" "0" "90" "X" "38367361" "38367361" "subst" "0" "00002" "OTC_000007" "g.38367361G>T" "1/11" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}, {dbSNP:rs67486158}, {OMIM:300461:0017} {ClinVar:11002}" "c.148 T>G" "" "rs67486158" "0000000834" "0" "90" "X" "38369824" "38369825" "delins" "0" "00002" "OTC_000008" "g.38369824_38369825delinsAG" "1/11" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}" "c.245_246delTAinsAG" "" "" "0000000835" "0" "90" "X" "38411999" "38411999" "subst" "0" "00002" "OTC_000009" "g.38411999G>A" "1/11" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}, {dbSNP:rs281865553}, {ClinVar:97091}" "" "" "rs281865553" "0000000836" "0" "90" "X" "38403715" "38403715" "subst" "0" "00002" "OTC_000010" "g.38403715T>C" "1/11" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}" "" "" "rs202014362" "0000000837" "0" "90" "X" "38401310" "38401310" "subst" "0" "00002" "OTC_000011" "g.38401310G>A" "1/11" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}, {dbSNP:rs68026851}, {OMIM:300461:0002} {ClinVar:10987}" "" "" "rs68026851" "0000000838" "0" "90" "X" "38403672" "38403672" "subst" "0" "00002" "OTC_000012" "g.38403672A>C" "1/5" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}" "" "" "rs549509251" "0000000839" "0" "90" "X" "38401310" "38401310" "subst" "0" "00002" "OTC_000011" "g.38401310G>A" "1/5" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}, {dbSNP:rs68026851}, {OMIM:300461:0002} {ClinVar:10987}" "" "" "rs68026851" "0000000840" "0" "90" "X" "38408157" "38408157" "delins" "0" "00002" "OTC_000013" "g.38408157delinsC" "1/5" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}" "Glu271Aspfs*288" "" "" "0000000841" "0" "90" "X" "38403715" "38403715" "subst" "0" "00002" "OTC_000010" "g.38403715T>C" "2/5" "{PMID:Ernie Zuraida Ali et al. (2018):30175132}" "" "" "rs202014362" ## 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 OTC ## Count = 15 "{{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/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000000827" "00000040" "90" "513" "0" "513" "0" "c.513G>T" "5" "p.(Gln171His)" "r.(?)" "" "" "" "0000000828" "00000040" "90" "133" "0" "133" "0" "c.133C>G" "2" "p.(Leu45Val)" "r.(?)" "" "" "{ClinVar:97110}" "0000000829" "00000040" "90" "299" "0" "299" "0" "c.299G>A" "4" "p.(Gly100Asp)" "r.(?)" "" "" "{ClinVar:97163}" "0000000830" "00000040" "90" "286" "0" "286" "0" "c.286T>C" "3" "p.(Ser96Pro)" "r.(?)" "" "" "" "0000000831" "00000040" "90" "595" "0" "595" "0" "c.595A>G" "6" "p.(Asn199Asp)" "r.(?)" "" "" "{ClinVar:97264}" "0000000832" "00000040" "90" "583" "0" "583" "0" "c.583G>A" "6" "p.(Gly195Arg)" "r.(?)" "" "" "{ClinVar:97255}" "0000000833" "00000040" "90" "148" "0" "148" "0" "c.148G>T" "2" "p.(Gly50*)" "r.(?)" "" "" "{ClinVar:11002}" "0000000834" "00000040" "90" "245" "0" "246" "0" "c.245_246delinsAG" "10" "p.(Leu82*)" "r.(?)" "" "" "" "0000000835" "00000040" "90" "1005" "0" "1005" "0" "c.1005G>A" "9" "p.(Met335Ile)" "r.(?)" "" "" "{ClinVar:97091}" "0000000836" "00000040" "90" "638" "0" "638" "0" "c.638T>C" "10" "p.(Met213Thr)" "r.(?)" "" "" "" "0000000837" "00000040" "90" "422" "0" "422" "0" "c.422G>A" "5" "p.(Arg141Gln)" "r.(?)" "" "" "{ClinVar:10987}" "0000000838" "00000040" "90" "595" "0" "595" "0" "c.595A>C" "6" "p.(Asn199His)" "r.(?)" "" "" "" "0000000839" "00000040" "90" "422" "0" "422" "0" "c.422G>A" "5" "p.(Arg141Gln)" "r.(?)" "" "" "{ClinVar:10987}" "0000000840" "00000040" "90" "664" "-585" "664" "-585" "c.664-585delinsC" "8" "p.(=)" "r.(=)" "" "" "" "0000000841" "00000040" "90" "638" "0" "638" "0" "c.638T>C" "10" "p.(Met213Thr)" "r.(?)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000188" "0000000827" "0000000188" "0000000828" "0000000188" "0000000829" "0000000188" "0000000830" "0000000188" "0000000831" "0000000188" "0000000832" "0000000188" "0000000833" "0000000188" "0000000834" "0000000188" "0000000835" "0000000188" "0000000836" "0000000188" "0000000837" "0000000189" "0000000838" "0000000189" "0000000839" "0000000189" "0000000840" "0000000189" "0000000841"