### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HTR3C) # 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}}" "HTR3C" "5-hydroxytryptamine (serotonin) receptor 3C, ionotropic" "3" "q27" "unknown" "NG_012749.1" "UD_132118845118" "" "https://www.LOVD.nl/HTR3C" "IUPHAR/BPS guide to Pharmacology \r\nDSM online Library " "1" "24003" "170572" "610121" "1" "1" "1" "1" "University of Heidelberg Serotonin receptor variant database\r\nEstablishment of this gene variant database (LSDB) was performed for LOVD by Jacopo Celli (Leiden University Medical Center, NL)." "" "g" "https://databases.lovd.nl/shared/refseq/HTR3C_codingDNA.html" "1" "" "University of Heidelberg Serotonin receptor variant database" "-1" "" "-1" "00001" "2010-05-25 00:00:00" "00006" "2020-10-26 12:22:59" "00006" "2022-11-10 11:25:00" ## 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}}" "00009725" "HTR3C" "5-hydroxytryptamine (serotonin) receptor 3, family member C" "001" "NM_130770.2" "" "NP_570126.2" "" "" "" "-34" "1665" "1344" "183770835" "183778461" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "04246" "IBD" "bowel disease, inflammatory (IBD)" "" "" "" "" "" "00006" "2015-05-01 23:30:32" "" "" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00315444" "" "" "" "1" "" "03806" "{PMID:Fasching 2008:18389280}" "Pharmacogenetic study" "" "" "Germany" "" "0" "" "" "white" "" "00315445" "" "" "" "1" "" "03806" "Kapeller meeting abstract DDW 2009" "Case control study" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00315446" "" "" "" "1" "" "03806" "{PMID:Rehnstrom 2009:19035560}" "Case control study" "" "" "Finland" "" "0" "" "" "white" "" "00315447" "" "" "" "1" "" "03806" "{PMID:Lennertz 2014:23928294}" "Case" "" "" "Germany" "" "0" "" "" "white" "" "00315448" "" "" "" "1" "" "03806" "{PMID:Fasching 2008:18389280}" "Case control study" "" "" "Germany" "" "0" "" "" "white" "" "00315449" "" "" "" "1" "" "03806" "{PMID:Göcke 2009:20021265}" "Pharmacogenetic study, pregnant women" "" "" "Germany" "" "0" "" "" "white" "" "00315450" "" "" "" "1" "" "03806" "{PMID:Rehnstrom 2009:19035560}" "Case control study" "" "" "Finland" "" "0" "" "" "white" "" "00315451" "" "" "" "1" "" "03806" "{PMID:Göcke 2009:20021265}" "Pharmacogenetic study, pregnant women" "" "" "Germany" "" "0" "" "" "white" "" "00419456" "" "" "" "29" "" "04402" "Atanasova 2022, submitted" "analysis 86 cases IBD" "" "" "" "" "0" "" "" "" "" "00422375" "" "" "" "18" "" "04402" "Atanasova 2022, submitted" "analysis 86 cases IBD" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00315444" "05093" "00315445" "00198" "00315446" "00138" "00315447" "00198" "00315448" "05093" "00315449" "00198" "00315450" "00138" "00315451" "00198" "00419456" "04246" "00422375" "04246" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 04246, 05093 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000239196" "05093" "00315444" "03806" "Unknown" "" "chemotherapy-induced nausea and vomiting" "" "" "" "" "" "" "" "" "" "" "cancer" "" "0000239197" "00198" "00315445" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "irritable bowel syndrome, diarrhea" "" "0000239198" "00138" "00315446" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000239199" "00198" "00315447" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "obsessive-compulsive disorder" "" "0000239200" "05093" "00315448" "03806" "Unknown" "" "chemotherapy-induced nausea and vomiting" "" "" "" "" "" "" "" "" "" "" "cancer" "" "0000239201" "00198" "00315449" "03806" "Unknown" "" "nausea and vomiting in pregnancy" "" "" "" "" "" "" "" "" "" "" "nausea and vomiting in pregnancy" "" "0000239202" "00138" "00315450" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000239203" "00198" "00315451" "03806" "Unknown" "" "nausea and vomiting in pregnancy" "" "" "" "" "" "" "" "" "" "" "nausea and vomiting in pregnancy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000316620" "00315444" "1" "03806" "03806" "2012-06-25 11:37:52" "" "" "arraySNP" "DNA" "blood" "" "0000316621" "00315445" "1" "03806" "03806" "2012-06-25 11:37:52" "" "" "SEQ" "DNA" "blood" "" "0000316622" "00315446" "1" "03806" "03806" "2012-06-25 11:37:52" "03806" "2016-06-29 23:07:20" "PE" "DNA" "blood" "allele-specific primer extension" "0000316623" "00315447" "1" "03806" "03806" "2016-04-28 17:15:22" "03806" "2016-06-29 23:06:44" "?" "DNA" "blood" "" "0000316624" "00315448" "1" "03806" "03806" "2012-06-25 11:37:52" "" "" "arraySNP" "DNA" "blood" "" "0000316625" "00315449" "1" "03806" "03806" "2012-06-25 11:37:52" "" "" "arraySNP" "DNA" "blood" "" "0000316626" "00315450" "1" "03806" "03806" "2012-06-25 11:37:52" "03806" "2016-06-29 23:07:56" "PE" "DNA" "blood" "allele-specific primer extension" "0000316627" "00315451" "1" "03806" "03806" "2012-06-25 11:37:52" "" "" "arraySNP" "DNA" "blood" "" "0000420760" "00419456" "1" "04402" "04402" "2022-10-20 16:18:27" "" "" "PCR" "DNA" "" "" "0000423686" "00422375" "1" "04402" "04402" "2022-10-20 16:18:27" "" "" "PCR" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000316620" "HTR3C" "0000316621" "HTR3C" "0000316622" "HTR3C" "0000316623" "HTR3C" "0000316624" "HTR3C" "0000316625" "HTR3C" "0000316626" "HTR3C" "0000316627" "HTR3C" "0000420760" "HTR3A" "0000420760" "HTR3B" "0000420760" "HTR3C" "0000420760" "HTR3E" "0000420760" "SLC6A4" "0000423686" "HTR3C" ## 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 = 10 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000698775" "0" "99" "3" "183774762" "183774762" "subst" "0.451337" "03806" "HTR3C_000001" "g.183774762C>A" "0.38" "{PMID:Fasching 2008:18389280}" "+BsrI; -Hpy166II, BssKI, BstNI, PspGI, ScrFI, StyD4I" "p.N163K; (c.523C>A)" "" "Germline" "" "rs6766410" "0" "" "" "g.184056974C>A" "" "association" "" "0000698776" "0" "99" "3" "183774762" "183774762" "subst" "0.451337" "03806" "HTR3C_000001" "g.183774762C>A" "0.38 (0.31-0.45)" "Kapeller meeting abstract DDW 2009" "+BsrI; -Hpy166II, BssKI, BstNI, PspGI, ScrFI, StyD4I" "p.N163K; (c.523C>A)" "decreased receptor density at cell surface (85% of control)" "Germline" "" "rs6766410" "0" "" "" "g.184056974C>A" "" "association" "" "0000698777" "0" "99" "3" "183774762" "183774762" "subst" "0.451337" "03806" "HTR3C_000001" "g.183774762C>A" "0.42" "{PMID:Rehnstrom 2009:19035560}" "+BsrI; -Hpy166II, BssKI, BstNI, PspGI, ScrFI, StyD4I" "p.N163K; (c.523C>A)" "" "Germline" "" "rs6766410" "0" "" "" "g.184056974C>A" "" "association" "" "0000698778" "0" "55" "3" "183774762" "183774762" "subst" "0.451337" "03806" "HTR3C_000001" "g.183774762C>A" "" "{PMID:Lennertz 2014:23928294}" "+BsrI; -Hpy166II, BssKI, BstNI, PspGI, ScrFI, StyD4I" "p.N163K; rs6766410" "" "Germline" "" "rs6766410" "0" "" "" "g.184056974C>A" "" "VUS" "" "0000698779" "0" "55" "3" "183778010" "183778010" "subst" "0.553307" "03806" "HTR3C_000002" "g.183778010G>C" "0.46" "{PMID:Fasching 2008:18389280}" "+BlpI; -CviAII, FatI, NlaIII, Bpu10I, BtsCI, FokI, Hpy188III" "p.A405G; (c.1248G>C)" "" "Germline" "" "rs6807362" "0" "" "" "g.184060222G>C" "" "VUS" "" "0000698780" "0" "55" "3" "183778010" "183778010" "subst" "0.553307" "03806" "HTR3C_000002" "g.183778010G>C" "0.47" "{PMID:Göcke 2009:20021265}" "+BlpI; -CviAII, FatI, NlaIII, Bpu10I, BtsCI, FokI, Hpy188III" "p.A405G; (c.1248G>C)" "" "Germline" "" "rs6807362" "0" "" "" "g.184060222G>C" "" "VUS" "" "0000698781" "0" "55" "3" "183778010" "183778010" "subst" "0.553307" "03806" "HTR3C_000002" "g.183778010G>C" "0.42" "{PMID:Rehnstrom 2009:19035560}" "+BlpI; -CviAII, FatI, NlaIII, Bpu10I, BtsCI, FokI, Hpy188III" "p.A405G; (c.1248G>C)" "" "Germline" "" "rs6807362" "0" "" "" "g.184060222G>C" "" "VUS" "" "0000698782" "0" "55" "3" "183778298" "183778298" "subst" "0" "03806" "HTR3C_000003" "g.183778298G>A" "0.42" "{PMID:Göcke 2009:20021265}" "-BsmFI" "" "" "Germline" "" "rs6807670" "0" "" "" "g.184060510G>A" "" "VUS" "" "0000881383" "1" "10" "3" "183774762" "183774762" "subst" "0.451337" "04402" "HTR3C_000001" "g.183774762C>A" "29/83 cases IBD" "Atanasova 2022, submitted" "" "N163K (523C>A)" "" "Germline" "" "rs6766410" "0" "" "" "g.184056974C>A" "" "benign" "" "0000899436" "3" "10" "3" "183774762" "183774762" "subst" "0.451337" "04402" "HTR3C_000001" "g.183774762C>A" "18/83 cases IBD" "Atanasova 2022, submitted" "" "N163K (523C>A)" "" "Germline" "" "rs6766410" "0" "" "" "g.184056974C>A" "" "benign" "" ## 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 HTR3C ## Count = 10 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein/Domain}}" "0000698775" "00009725" "99" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Asn163Lys)" "5" "N-term, Cys-loop" "0000698776" "00009725" "99" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Asn163Lys)" "5" "N-term, Cys-loop" "0000698777" "00009725" "99" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Asn163Lys)" "5" "N-term, Cys-loop" "0000698778" "00009725" "55" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Asn163Lys)" "5" "N-term, Cys-loop" "0000698779" "00009725" "55" "1214" "0" "1214" "0" "c.1214G>C" "r.(?)" "p.(Gly405Ala)" "9" "LIL" "0000698780" "00009725" "55" "1214" "0" "1214" "0" "c.1214G>C" "r.(?)" "p.(Gly405Ala)" "9" "LIL" "0000698781" "00009725" "55" "1214" "0" "1214" "0" "c.1214G>C" "r.(?)" "p.(Gly405Ala)" "9" "LIL" "0000698782" "00009725" "55" "1502" "0" "1502" "0" "c.*158G>A" "r.(?)" "p.(=)" "9" "" "0000881383" "00009725" "10" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Asn163Lys)" "" "" "0000899436" "00009725" "10" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Asn163Lys)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000316620" "0000698775" "0000316621" "0000698776" "0000316622" "0000698777" "0000316623" "0000698778" "0000316624" "0000698779" "0000316625" "0000698780" "0000316626" "0000698781" "0000316627" "0000698782" "0000420760" "0000881383" "0000423686" "0000899436"