### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRPC3) # 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}}" "TRPC3" "transient receptor potential cation channel, subfamily C, member 3" "4" "q27" "unknown" "NC_000004.11" "UD_133033860116" "" "https://www.LOVD.nl/TRPC3" "" "1" "12335" "7222" "602345" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TRPC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-05-08 10:41:05" "00000" "2025-05-05 21:14:00" ## 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}}" "00025923" "TRPC3" "transcript variant 1" "001" "NM_001130698.1" "" "NP_001124170.1" "" "" "" "-74" "3474" "2766" "122872909" "122800183" "00006" "2024-05-08 10:41:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "05043" "SCA41" "ataxia, spinocerebellar, type 41 (SCA-41)" "AD" "616410" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TRPC3" "05043" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00449727" "" "" "" "1" "" "02190" "" "" "" "no" "" "" "" "" "" "" "" "00449728" "" "" "" "1" "" "02190" "" "" "" "no" "" "" "" "" "" "" "" "00449729" "" "" "" "1" "" "02190" "" "" "" "no" "" "" "0" "" "" "" "" "00449731" "" "" "" "1" "" "02190" "" "" "" "no" "" "" "" "" "" "" "" "00449732" "" "" "" "1" "" "02190" "" "" "" "no" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00449727" "00138" "00449728" "00138" "00449729" "00138" "00449731" "00138" "00449732" "00138" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 05043 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000451319" "00449727" "1" "02190" "02190" "2024-05-07 10:59:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000451320" "00449728" "1" "02190" "02190" "2024-05-07 11:02:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000451321" "00449729" "1" "02190" "02190" "2024-05-07 11:06:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000451323" "00449731" "1" "02190" "02190" "2024-05-07 11:09:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000451324" "00449732" "1" "02190" "02190" "2024-05-07 11:11:41" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000451319" "TRPC3" "0000451320" "TRPC3" "0000451321" "TRPC3" "0000451323" "TRPC3" "0000451324" "TRPC3" ## 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 = 13 "{{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}}" "0000521445" "0" "30" "4" "122831397" "122831397" "subst" "0.00073991" "01943" "TRPC3_000001" "g.122831397C>T" "" "" "" "TRPC3(NM_001130698.1):c.1704G>A (p.T568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121910242C>T" "" "likely benign" "" "0000609054" "0" "30" "4" "122831394" "122831394" "subst" "0.00240271" "01943" "TRPC3_000002" "g.122831394C>T" "" "" "" "TRPC3(NM_001366479.1):c.1707G>A (p.K569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121910239C>T" "" "likely benign" "" "0000655080" "0" "30" "4" "122831369" "122831369" "subst" "3.66095E-5" "01943" "TRPC3_000003" "g.122831369C>T" "" "" "" "TRPC3(NM_001366479.1):c.1732G>A (p.V578I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121910214C>T" "" "likely benign" "" "0000677179" "0" "30" "4" "122872662" "122872662" "subst" "0.000230118" "01943" "TRPC3_000004" "g.122872662C>A" "" "" "" "TRPC3(NM_001366479.1):c.174G>T (p.P58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000859221" "0" "50" "4" "122835991" "122835991" "subst" "0.000247941" "01943" "TRPC3_000005" "g.122835991C>T" "" "" "" "TRPC3(NM_001130698.1):c.1285G>A (p.V429M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000859222" "0" "30" "4" "122853750" "122853750" "subst" "0.00181963" "01943" "TRPC3_000006" "g.122853750G>A" "" "" "" "TRPC3(NM_001366479.1):c.663C>T (p.Y221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000985171" "0" "70" "4" "122824038" "122824038" "subst" "4.08517E-6" "02190" "TRPC3_000008" "g.122824038A>G" "" "" "" "" "" "De novo" "" "rs757145687" "0" "" "" "g.121902883A>G" "" "VUS" "ACMG" "0000985172" "0" "70" "4" "122828602" "122828602" "subst" "0" "02190" "TRPC3_000012" "g.122828602G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.121907447G>A" "" "likely pathogenic" "ACMG" "0000985173" "0" "70" "4" "122800994" "122800994" "subst" "0" "02190" "TRPC3_000009" "g.122800994C>A" "" "" "" "*116G>T" "" "De novo" "" "" "0" "" "" "g.121879839C>A" "" "VUS" "ACMG" "0000985174" "0" "90" "4" "122853556" "122853556" "subst" "1.21903E-5" "02190" "TRPC3_000011" "g.122853556G>C" "" "" "" "" "" "De novo" "" "rs774832979" "0" "" "" "g.121932401G>C" "" "likely pathogenic" "ACMG" "0000985175" "0" "70" "4" "122846201" "122846201" "subst" "0" "02190" "TRPC3_000010" "g.122846201T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.121925046T>A" "" "VUS" "ACMG" "0001034309" "0" "30" "4" "122846375" "122846375" "subst" "9.52513E-5" "02326" "TRPC3_000013" "g.122846375G>A" "" "" "" "TRPC3(NM_001130698.1):c.988-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034310" "0" "30" "4" "122853717" "122853717" "subst" "5.6911E-5" "02326" "TRPC3_000014" "g.122853717C>T" "" "" "" "TRPC3(NM_001130698.1):c.696G>A (p.P232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 TRPC3 ## Count = 13 "{{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}}" "0000521445" "00025923" "30" "1704" "0" "1704" "0" "c.1704G>A" "r.(?)" "p.(Thr568=)" "" "0000609054" "00025923" "30" "1707" "0" "1707" "0" "c.1707G>A" "r.(?)" "p.(Lys569=)" "" "0000655080" "00025923" "30" "1732" "0" "1732" "0" "c.1732G>A" "r.(?)" "p.(Val578Ile)" "" "0000677179" "00025923" "30" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Pro58=)" "" "0000859221" "00025923" "50" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Val429Met)" "" "0000859222" "00025923" "30" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(Tyr221=)" "" "0000985171" "00025923" "70" "2432" "0" "2432" "0" "c.2432T>C" "r.(?)" "p.(Ile811Thr)" "" "0000985172" "00025923" "70" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Pro638Leu)" "" "0000985173" "00025923" "70" "2663" "0" "2663" "0" "c.2663G>T" "r.(?)" "p.(Arg888Leu)" "" "0000985174" "00025923" "90" "857" "0" "857" "0" "c.857C>G" "r.(?)" "p.(Ser286Trp)" "" "0000985175" "00025923" "70" "1148" "0" "1148" "0" "c.1148A>T" "r.(?)" "p.(Lys383Ile)" "" "0001034309" "00025923" "30" "988" "-14" "988" "-14" "c.988-14C>T" "r.(=)" "p.(=)" "" "0001034310" "00025923" "30" "696" "0" "696" "0" "c.696G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000451319" "0000985171" "0000451320" "0000985172" "0000451321" "0000985173" "0000451323" "0000985174" "0000451324" "0000985175"