### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HTR2A) # 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}}" "HTR2A" "5-hydroxytryptamine receptor 2A" "13" "q14.2" "unknown" "LRG_1008" "UD_144422931198" "" "" "" "1" "5293" "3356" "182135" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-01-21 10:13:40" "" "" "00005" "2021-09-02 11:18:26" ## 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}}" "00000109" "HTR2A" "transcript variant 1" "002" "NM_000621.4" "" "NP_000612.1" "" "" "" "-731" "4711" "1416" "46897076" "46831542" "00001" "2021-01-21 10:13:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00060" "BPD" "Bipolar disorder" "" "" "" "" "" "00001" "2021-01-20 11:25:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HTR2A" "00060" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000375" "" "" "" "1" "" "00002" "{DOI:Mohd Aizat Zain et al. (2018):10.31117/neuroscirn.v1i1.9}" "" "" "Malaysia" "Malay" "" "" "00000376" "" "" "" "1" "" "00002" "{DOI:Mohd Aizat Zain et al. (2018):10.31117/neuroscirn.v1i1.9}" "" "" "Malaysia" "Chinese" "" "" "00000377" "" "" "" "1" "" "00002" "{DOI:Mohd Aizat Zain et al. (2018):10.31117/neuroscirn.v1i1.9}" "" "" "Malaysia" "Indian" "" "" "00000444" "" "" "" "1" "" "00004" "{DOI:Mohd Aizat Zain et al.(2018):10.31117/neuroscirn.v1i1.9}" "" "" "Malaysia" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000375" "00060" "00000376" "00060" "00000377" "00060" "00000444" "00060" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00060 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000389" "00000375" "1" "00002" "00002" "2021-01-21 10:17:57" "" "" "PCR" "DNA" "0000000390" "00000376" "1" "00002" "00002" "2021-01-21 11:47:25" "" "" "PCR" "DNA" "0000000391" "00000377" "1" "00002" "00002" "2021-01-21 12:02:13" "" "" "PCR" "DNA" "0000000482" "00000444" "1" "00004" "00004" "2021-02-22 09:47:29" "" "" "PCR" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000000389" "HTR2A" "0000000390" "HTR2A" "0000000391" "HTR2A" "0000000482" "HTR2A" ## 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 = 21 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001722" "0" "90" "13" "46895805" "46895805" "subst" "0" "00002" "HTR2A_000001" "g.46895805G>A" "31/75" "{dbSNP:rs6313}, {ClinVar:511089}" "" "" "rs6313" "0000001723" "3" "90" "13" "46895805" "46895805" "subst" "0" "00002" "HTR2A_000001" "g.46895805G>A" "33/75" "{dbSNP:rs6313}, {ClinVar:511089}" "" "" "rs6313" "0000001724" "0" "90" "13" "46893491" "46893491" "subst" "0" "00002" "HTR2A_000002" "g.46893491G>A" "30/75" "{dbSNP:rs2070040}" "" "" "rs2070040" "0000001725" "3" "90" "13" "46893491" "46893491" "subst" "0" "00002" "HTR2A_000002" "g.46893491G>A" "8/75" "{dbSNP:rs2070040}" "" "" "rs2070040" "0000001726" "0" "90" "13" "46897343" "46897343" "subst" "0" "00002" "HTR2A_000003" "g.46897343C>T" "28/75" "{dbSNP:rs6311}, {ClinVar:511090}" "" "" "rs6311" "0000001727" "3" "30" "13" "46897343" "46897343" "subst" "0" "00002" "HTR2A_000003" "g.46897343C>T" "34/75" "{dbSNP:rs6311}, {ClinVar:511090}" "" "" "rs6311" "0000001728" "0" "90" "13" "46895805" "46895805" "subst" "0" "00002" "HTR2A_000001" "g.46895805G>A" "49/104" "{dbSNP:rs6313}, {ClinVar:511089}" "" "" "rs6313" "0000001729" "3" "30" "13" "46895805" "46895805" "subst" "0" "00002" "HTR2A_000001" "g.46895805G>A" "44/104" "{dbSNP:rs6313}, {ClinVar:511089}" "" "" "rs6313" "0000001730" "0" "90" "13" "46893491" "46893491" "subst" "0" "00002" "HTR2A_000002" "g.46893491G>A" "52/104" "{dbSNP:rs2070040}" "" "" "rs2070040" "0000001731" "3" "90" "13" "46893491" "46893491" "subst" "0" "00002" "HTR2A_000002" "g.46893491G>A" "9/104" "{dbSNP:rs2070040}" "" "" "rs2070040" "0000001732" "0" "30" "13" "46897343" "46897343" "subst" "0" "00002" "HTR2A_000003" "g.46897343C>T" "51/104" "{dbSNP:rs6311}, {ClinVar:511090}" "" "" "rs6311" "0000001733" "3" "30" "13" "46897343" "46897343" "subst" "0" "00002" "HTR2A_000003" "g.46897343C>T" "42/104" "{dbSNP:rs6311}, {ClinVar:511090}" "" "" "rs6311" "0000001734" "0" "30" "13" "46895805" "46895805" "subst" "0" "00002" "HTR2A_000001" "g.46895805G>A" "39/74" "{dbSNP:rs6313}, {ClinVar:511089}" "" "" "rs6313" "0000001735" "3" "30" "13" "46895805" "46895805" "subst" "0" "00002" "HTR2A_000001" "g.46895805G>A" "16/74" "{dbSNP:rs6313}, {ClinVar:511089}" "" "" "rs6313" "0000001736" "0" "90" "13" "46893491" "46893491" "subst" "0" "00002" "HTR2A_000002" "g.46893491G>A" "37/74" "{dbSNP:rs2070040}" "" "" "rs2070040" "0000001737" "3" "90" "13" "46893491" "46893491" "subst" "0" "00002" "HTR2A_000002" "g.46893491G>A" "7/74" "{dbSNP:rs2070040}" "" "" "rs2070040" "0000001738" "0" "30" "13" "46897343" "46897343" "subst" "0" "00002" "HTR2A_000003" "g.46897343C>T" "38/74" "{dbSNP:rs6311}, {ClinVar:511090}" "" "" "rs6311" "0000001739" "3" "30" "13" "46897343" "46897343" "subst" "0" "00002" "HTR2A_000003" "g.46897343C>T" "16/74" "{dbSNP:rs6311}, {ClinVar:511090}" "" "" "rs6311" "0000002086" "0" "90" "13" "46895805" "46895805" "subst" "0" "00004" "HTR2A_000001" "g.46895805G>A" "" "{dbSNP:Rs6313}" "" "" "rs6313" "0000002087" "0" "90" "13" "46893491" "46893491" "subst" "0" "00004" "HTR2A_000002" "g.46893491G>A" "" "{dbSNP:rs2070040}" "" "" "rs2070040" "0000002088" "0" "90" "13" "46897343" "46897343" "subst" "0" "00004" "HTR2A_000003" "g.46897343C>T" "" "{dbSNP:rs6311}" "" "" "rs6311" ## 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 HTR2A ## Count = 21 "{{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/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001722" "00000109" "90" "102" "0" "102" "0" "c.102C>T" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511089}" "0000001723" "00000109" "90" "102" "0" "102" "0" "c.102C>T" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511089}" "0000001724" "00000109" "90" "413" "-901" "413" "-901" "c.413-901C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001725" "00000109" "90" "413" "-901" "413" "-901" "c.413-901C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001726" "00000109" "90" "-998" "0" "-998" "0" "c.-998G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511090}" "0000001727" "00000109" "30" "-998" "0" "-998" "0" "c.-998G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511090}" "0000001728" "00000109" "90" "102" "0" "102" "0" "c.102C>T" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511089}" "0000001729" "00000109" "30" "102" "0" "102" "0" "c.102C>T" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511089}" "0000001730" "00000109" "90" "413" "-901" "413" "-901" "c.413-901C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001731" "00000109" "90" "413" "-901" "413" "-901" "c.413-901C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001732" "00000109" "30" "-998" "0" "-998" "0" "c.-998G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511090}" "0000001733" "00000109" "30" "-998" "0" "-998" "0" "c.-998G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511090}" "0000001734" "00000109" "30" "102" "0" "102" "0" "c.102C>T" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511089}" "0000001735" "00000109" "30" "102" "0" "102" "0" "c.102C>T" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511089}" "0000001736" "00000109" "90" "413" "-901" "413" "-901" "c.413-901C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001737" "00000109" "90" "413" "-901" "413" "-901" "c.413-901C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001738" "00000109" "30" "-998" "0" "-998" "0" "c.-998G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511090}" "0000001739" "00000109" "30" "-998" "0" "-998" "0" "c.-998G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:511090}" "0000002086" "00000109" "90" "102" "0" "102" "0" "c.102C>T" "" "p.(=)" "r.(=)" "" "" "Likely benign" "0000002087" "00000109" "90" "413" "-901" "413" "-901" "c.413-901C>T" "" "p.(=)" "r.(=)" "" "" "" "0000002088" "00000109" "90" "-998" "0" "-998" "0" "c.-998G>A" "" "p.(=)" "r.(=)" "" "" "Likely benign" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000000389" "0000001722" "0000000389" "0000001723" "0000000389" "0000001724" "0000000389" "0000001725" "0000000389" "0000001726" "0000000389" "0000001727" "0000000390" "0000001728" "0000000390" "0000001729" "0000000390" "0000001730" "0000000390" "0000001731" "0000000390" "0000001732" "0000000390" "0000001733" "0000000391" "0000001734" "0000000391" "0000001735" "0000000391" "0000001736" "0000000391" "0000001737" "0000000391" "0000001738" "0000000391" "0000001739" "0000000482" "0000002086" "0000000482" "0000002087" "0000000482" "0000002088"