### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC2A9) # 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}}" "SLC2A9" "solute carrier family 2 member 9" "4" "p16.1" "unknown" "NG_011540.1" "UD_144435548658" "" "" "" "1" "13446" "56606" "606142" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-02-18 00:00:00" "00001" "2021-02-18 11:59:28" "00005" "2021-08-01 13:04:07" ## 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}}" "00000169" "SLC2A9" "transcript variant 2" "001" "NM_001001290.1" "" "NP_001001290.1" "" "" "" "-159" "1709" "1536" "10040248" "9826224" "00001" "2021-02-18 10:58:50" "" "" ## 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}}" "00065" "-" "Gout" "" "" "" "" "" "00001" "2021-02-18 11:12:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC2A9" "00065" ## 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}}" "00000435" "" "" "" "1" "" "00004" "{PMID:W T Wan Rohani et al. (2018):30350810}" "" "" "Malaysia" "Malay" "" "" "00000447" "" "" "" "1" "" "00004" "{DOI:Mahfudzah A et al.(2015):10.31436/imjm.v14i2.432}" "" "" "Malaysia" "Malay" "" "M" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00000435" "00065" "00000447" "00065" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00065 ## Count = 0 ## 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}}" "0000000472" "00000435" "1" "00004" "00004" "2021-02-21 08:51:50" "" "" "PCR" "DNA" "0000000485" "00000447" "1" "00004" "00004" "2021-02-22 11:13:37" "" "" "PCR" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000000472" "SLC2A9" "0000000485" "SLC2A9" ## 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 = 4 "{{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}}" "0000002068" "0" "90" "4" "9920506" "9920506" "subst" "0" "00004" "SLC2A9_000001" "g.9920506C>T" "" "{PMID:W T Wan Rohani et al.(2018):30350810}" "" "" "rs3733591" "0000002093" "0" "90" "4" "9920506" "9920506" "subst" "0" "00004" "SLC2A9_000001" "g.9920506C>T" "" "{dbSNP:rs3733591}" "" "" "rs3733591" "0000002094" "0" "90" "4" "9939182" "9939182" "subst" "0" "00004" "SLC2A9_000002" "g.9939182G>A" "" "{dbSNP:rs5028843}" "" "" "rs5028843" "0000002095" "0" "10" "4" "9961141" "9961141" "subst" "0" "00004" "SLC2A9_000003" "g.9961141T>C" "" "{dbSNP:rs11942223}" "" "" "rs11942223" ## 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 SLC2A9 ## Count = 4 "{{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/VariantOnTranscript}}" "0000002068" "00000169" "90" "794" "0" "794" "0" "c.794G>A" "13" "p.(Arg265His)" "r.(?)" "" "" "0000002093" "00000169" "90" "794" "0" "794" "0" "c.794G>A" "" "p.(Arg265His)" "r.(?)" "" "Benign" "0000002094" "00000169" "90" "727" "2731" "727" "2731" "c.727+2731C>T" "" "p.(=)" "r.(=)" "" "" "0000002095" "00000169" "10" "595" "-19096" "595" "-19096" "c.595-19096A>G" "" "p.(=)" "r.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000000472" "0000002068" "0000000485" "0000002093" "0000000485" "0000002094" "0000000485" "0000002095"