### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TPMT) # 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}}" "TPMT" "thiopurine S-methyltransferase" "6" "p22.3" "unknown" "NG_012137.2" "UD_140838082103" "" "" "" "1" "1" "12014" "7172" "187680" "1" "1" "1" "" "" "" "" "1" "" "" "-1" "" "-1" "00000" "2014-08-18 12:53:59" "" "" "00000" "2014-08-18 12:53:59" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003319" "TPMT" "thiopurine S-methyltransferase" "001" "NM_000367.2" "" "NP_000358.1" "" "" "" "-155" "3095" "738" "18128542" "18155374" "00000" "2014-08-18 12:53:59" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 3 "{{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}}" "0000001165" "0" "99" "6" "18130918" "18130918" "subst" "35" "0.0454265" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-12-23 06:09:11" "TPMT_000001" "g.18130918T>C" "" "{PMID:10208641:10208641};{PMID:8561894:8561894};{PMID:8644731:8644731};{PMID:9177237:9177237};{PMID:9931345:9931345};{PMID:10751626:10751626};{PMID:15819814:15819814};{PMID:15967990:15967990};{PMID:9336428:9336428};{PMID:9931346:9931346};{PMID:16476125:16" "" "rs1142345" "subst" "0" ";" "5.920" "" "" "" "" "MSCV_0001165" "" "0000001166" "0" "99" "6" "18139228" "18139228" "subst" "35" "0.0282221" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-12-23 05:31:18" "TPMT_000002" "g.18139228C>T" "" "{PMID:9177237:9177237};{PMID:8561894:8561894};{PMID:8644731:8644731};{PMID:15819814:15819814};{PMID:15967990:15967990};{PMID:9931345:9931345};{PMID:10208641:10208641};{PMID:9336428:9336428};{PMID:9931346:9931346}" "" "rs1800460" "subst" "0" ";" "-0.479" "" "" "" "" "MSCV_0001166" "" "0000001167" "0" "55" "6" "18143955" "18143955" "subst" "35" "0.00153775" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-12-23 13:43:49" "TPMT_000003" "g.18143955C>G" "" "{PMID:7862671:7862671};{PMID:9931345:9931345};{PMID:8644731:8644731};{PMID:1960624:1960624};{PMID:9177237:9177237}" "" "rs1800462" "subst" "0" ";" "5.380" "" "" "" "" "MSCV_0001167" "" ## 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 = 3 "{{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}}" "0000001165" "00003319" "55" "719" "0" "719" "0" "c.719A>G" "9/9" "p.(Tyr240Cys)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001166" "00003319" "55" "460" "0" "460" "0" "c.460G>A" "6/9" "p.(Ala154Thr)" "r.(?)" "possibly_damaging(0.833)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001167" "00003319" "55" "238" "0" "238" "0" "c.238G>C" "4/9" "p.(Ala80Pro)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0.01)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0