### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TCF7L2) # 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}}" "TCF7L2" "transcription factor 7-like 2 (T-cell specific, HMG-box)" "10" "q25.3" "unknown" "NG_012631.1" "UD_139812323127" "" "" "" "1" "1" "11641" "6934" "602228" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-08-15 09:50:45" "" "" "00000" "2014-08-15 09:50:45" "" ## 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}}" "00003312" "TCF7L2" "transcript variant 2" "034" "NM_030756.4" "" "NP_110383.2" "" "" "" "-507" "3497" "1791" "114710009" "114927437" "00000" "2014-08-15 09:50:45" "" "" "" "" ## 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}}" "00102" "NIDDM" "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "125853" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TCF7L2" "00102" ## 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 = 8 "{{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}}" "0000000260" "0" "77" "10" "114758349" "114758349" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 08:51:07" "TCF7L2_000003" "g.114758349C>T" "" "{PMID:17245407:17245407};{PMID:17470138:17470138};{PMID:20118932:20118932};{PMID:21673050:21673050};{PMID:16415884:16415884};{PMID:17460697:17460697};{PMID:17463246:17463246};{PMID:17463249:17463249};{PMID:17503332:17503332};{PMID:18097733:18097733};{PMID" "" "rs7903146" "subst" "0" "; clinvar;" "1.000" "" "" "" "" "MSCV_0000260" "" "0000000261" "0" "77" "10" "114807047" "114807047" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-18 12:15:29" "TCF7L2_000001" "g.114807047G>C" "" "{PMID:17609304:17609304};{PMID:17340123:17340123};{PMID:18097733:18097733}" "" "rs11196205" "subst" "0" "; clinvar;" "-0.014" "" "" "" "" "MSCV_0000261" "" "0000000262" "0" "77" "10" "114808902" "114808902" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 08:51:25" "TCF7L2_000002" "g.114808902G>T" "" "{PMID:18097733:18097733};{PMID:17245407:17245407};{PMID:17470138:17470138};{PMID:16415884:16415884}" "" "rs12255372" "subst" "0" "; clinvar;" "-2.920" "" "" "" "" "MSCV_0000262" "" "0000001870" "0" "55" "10" "114756041" "114756041" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-28 08:51:19" "TCF7L2_000004" "g.114756041A>T" "" "" "" "rs4506565" "subst" "0" "; Ensembl;" "-1.320" "" "" "" "" "MSCV_0001870" "" "0000005168" "0" "00" "10" "114758349" "114758349" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2019-02-28 08:51:01" "TCF7L2_000003" "g.114758349C>T" "" "{PMID:17245407:17245407};{PMID:17470138:17470138};{PMID:20118932:20118932};{PMID:21673050:21673050};{PMID:16415884:16415884};{PMID:17460697:17460697};{PMID:17463246:17463246};{PMID:17463249:17463249};{PMID:17503332:17503332};{PMID:18097733:18097733};{PMID" "" "rs7903146" "subst" "0" "; ensembl;" "1.000" "" "" "" "" "MSCV_0005168" "" "0000016349" "0" "00" "10" "114758349" "114758349" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:50:50" "TCF7L2_000003" "g.114758349C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000260" "" "0000016350" "0" "00" "10" "114807047" "114807047" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:50:38" "TCF7L2_000001" "g.114807047G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000261" "" "0000016351" "0" "00" "10" "114808902" "114808902" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:51:14" "TCF7L2_000002" "g.114808902G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000262" "" ## 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 = 8 "{{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}}" "0000000260" "00003312" "77" "382" "-41435" "382" "-41435" "c.382-41435C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000261" "00003312" "77" "483" "7162" "483" "7162" "c.483+7162G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000262" "00003312" "77" "483" "9017" "483" "9017" "c.483+9017G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001870" "00003312" "55" "382" "-43743" "382" "-43743" "c.382-43743A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005168" "00003312" "00" "382" "-41435" "382" "-41435" "c.382-41435C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016349" "00003312" "00" "382" "-41435" "382" "-41435" "c.382-41435C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016350" "00003312" "00" "483" "7162" "483" "7162" "c.483+7162G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016351" "00003312" "00" "483" "9017" "483" "9017" "c.483+9017G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0