### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = INSR) # 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}}" "INSR" "insulin receptor" "19" "p13.3-p13.2" "unknown" "NC_000019.9" "UD_132118620192" "" "" "" "1" "1" "6091" "3643" "147670" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:06:55" "" "" "00000" "2013-11-26 22:06:55" "" ## 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}}" "00003128" "INSR" "transcript variant 1" "002" "NM_000208.2" "" "NP_000199.2" "" "" "" "-109" "8950" "4149" "7112266" "7294011" "00000" "2013-11-26 22:06:55" "" "" "" "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}}" "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}}" "INSR" "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 = 5 "{{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}}" "0000000762" "0" "99" "19" "7120718" "7120718" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 14:42:39" "INSR_000001" "g.7120718C>T" "" "{PMID:7814014:7814014};{PMID:1607076:1607076}" "" "rs121913150" "subst" "0" "; clinVar; Ensembl;" "4.520" "" "" "" "" "MSCV_0000762" "" "0000000763" "0" "99" "19" "7125518" "7125518" "subst" "35" "0.00638167" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:38" "INSR_000002" "g.7125518C>T" "" "{PMID:8900242:8900242};{PMID:10084586:10084586};{PMID:8432414:8432414}" "" "rs1799816" "subst" "0" "; clinVar; Ensembl;" "5.060" "" "" "" "" "MSCV_0000763" "" "0000002770" "0" "55" "19" "7141798" "7141798" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-11 14:38:43" "INSR_000003" "g.7141798T>C" "" "" "" "rs182552223" "subst" "0" ";" "4.290" "" "" "" "" "MSCV_0002770" "" "0000018594" "0" "99" "19" "7120718" "7120718" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:22:15" "INSR_000001" "g.7120718C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000762" "" "0000018595" "0" "77" "19" "7125518" "7125518" "subst" "35" "0.00638167" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:21:49" "INSR_000002" "g.7125518C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000763" "" ## 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 = 5 "{{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}}" "0000000762" "00003128" "99" "3572" "0" "3572" "0" "c.3572G>A" "20/22" "p.(Arg1191Gln)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000763" "00003128" "99" "3034" "0" "3034" "0" "c.3034G>A" "17/22" "p.(Val1012Met)" "r.(?)" "possibly_damaging(0.611)" "" "missense_variant" "" "" "deleterious(0.01)" "0000002770" "00003128" "55" "2572" "0" "2572" "0" "c.2572A>G" "13/22" "p.(Thr858Ala)" "r.(?)" "benign(0.001)" "" "missense_variant" "" "" "tolerated(0.13)" "0000018594" "00003128" "00" "3572" "0" "3572" "0" "c.3572G>A" "" "p.(Arg1191Gln)" "r.(?)" "" "" "" "" "" "-" "0000018595" "00003128" "00" "3034" "0" "3034" "0" "c.3034G>A" "" "p.(Val1012Met)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0