### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FGFR3) # 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}}" "FGFR3" "fibroblast growth factor receptor 3" "4" "p16.3" "unknown" "NG_012632.1" "UD_139212729236" "" "" "" "1" "1" "3690" "2261" "134934" "1" "1" "1" "" "" "" "" "1" "" "" "-1" "" "-1" "00000" "2014-08-18 12:54:10" "" "" "00000" "2014-08-18 12:54:10" "" ## 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}}" "00003320" "FGFR3" "transcript variant 1" "008" "NM_000142.4" "" "NP_000133.1" "" "" "" "-256" "4031" "2421" "1795039" "1810599" "00000" "2014-08-18 12:54:10" "" "" "" "" ## 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 = 6 "{{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}}" "0000000986" "0" "99" "4" "1803564" "1803564" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-03-10 14:04:43" "FGFR3_000005" "g.1803564C>T" "" "{PMID:10073901:10073901};{PMID:11529856:11529856};{PMID:12833394:12833394};{PMID:15772091:15772091};{PMID:16841094:16841094};{PMID:18642369:18642369};{PMID:8858131:8858131};{PMID:20301540:20301540};{PMID:7773297:7773297};{PMID:9677066:9677066}" "" "rs121913482" "subst" "0" ";" "3.000" "" "" "" "" "MSCV_0000986" "" "0000000987" "0" "55" "4" "1806083" "1806083" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-03-10 10:55:18" "FGFR3_000003" "g.1806083G>T" "" "" "" "" "subst" "0" ";" "2.890" "" "" "" "" "MSCV_0000987" "" "0000000988" "0" "99" "4" "1806089" "1806089" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-03-10 12:48:57" "FGFR3_000004" "g.1806089G>T" "" "{PMID:16841094:16841094};{PMID:20301540:20301540};{PMID:8845844:8845844}" "" "rs121913479" "subst" "0" ";" "2.740" "" "" "" "" "MSCV_0000988" "" "0000000989" "0" "99" "4" "1806119" "1806119" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-07-24 01:43:07" "FGFR3_000001" "g.1806119G>A" "" "{PMID:16841094:16841094};{PMID:7913883:7913883};{PMID:8078586:8078586};{PMID:8673103:8673103};{PMID:11030304:11030304};{PMID:15517832:15517832};{PMID:20624921:20624921};{PMID:9300656:9300656};{PMID:9718331:9718331};{PMID:16411219:16411219};{PMID:11186940:" "" "rs28931614" "subst" "0" ";" "3.820" "" "" "" "" "MSCV_0000989" "" "0000000990" "0" "99" "4" "1806119" "1806119" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-03-10 12:11:05" "FGFR3_000002" "g.1806119G>C" "" "{PMID:16841094:16841094};{PMID:7913883:7913883};{PMID:8078586:8078586};{PMID:8673103:8673103};{PMID:11030304:11030304};{PMID:15517832:15517832};{PMID:20624921:20624921};{PMID:9300656:9300656};{PMID:9718331:9718331};{PMID:16411219:16411219};{PMID:11186940:" "" "rs28931614" "subst" "0" ";" "3.820" "" "" "" "" "MSCV_0000990" "" "0000020616" "0" "99" "4" "1806089" "1806089" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-03-10 13:26:50" "FGFR3_000004" "g.1806089G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000988" "" ## 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 = 6 "{{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}}" "0000000986" "00003320" "00" "742" "0" "742" "0" "c.742C>T" "6/15" "p.(Arg248Cys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.04)" "0000000987" "00003320" "55" "1102" "0" "1102" "0" "c.1102G>T" "9/18" "p.(Glu368*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000988" "00003320" "00" "1108" "0" "1108" "0" "c.1108G>T" "9/18" "p.(Gly370Cys)" "r.(?)" "benign(0.027)" "" "missense_variant" "" "" "tolerated(0.1)" "0000000989" "00003320" "00" "1138" "0" "1138" "0" "c.1138G>A" "9/18" "p.(Gly380Arg)" "r.(?)" "possibly_damaging(0.796)" "" "missense_variant" "" "" "tolerated(0.26)" "0000000990" "00003320" "00" "1138" "0" "1138" "0" "c.1138G>C" "9/18" "p.(Gly380Arg)" "r.(?)" "possibly_damaging(0.796)" "" "missense_variant" "" "" "tolerated(0.26)" "0000020616" "00003320" "00" "1108" "0" "1108" "0" "c.1108G>T" "" "p.(Gly370Cys)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0