### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CNTNAP3) # 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}}" "CNTNAP3" "contactin associated protein-like 3" "9" "q12" "unknown" "NC_000009.11" "UD_136019150837" "" "https://www.LOVD.nl/CNTNAP3" "" "1" "13834" "79937" "610517" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-04-03 16:26:04" "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}}" "00005431" "CNTNAP3" "contactin associated protein-like 3" "001" "NM_033655.3" "" "NP_387504.2" "" "" "" "-239" "4990" "3867" "39288300" "39072764" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00228899" "" "" "" "1" "" "03243" "" "" "" "no" "Italy" "" "0" "" "" "" "" "00308725" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00228899" "00138" "00308725" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00138 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000172851" "00138" "00228899" "03243" "Unknown" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000229989" "00228899" "1" "03243" "03243" "2019-03-27 14:48:53" "" "" "-" "DNA" "Blood" "" "0000309870" "00308725" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000229989" "CNTNAP3" "0000309870" "CNTNAP3" ## 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}}" "0000471336" "0" "70" "9" "39103792" "39103792" "subst" "0" "03243" "CNTNAP3_000002" "g.39103792C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.39103795C>G" "" "VUS" "" "0000538202" "0" "30" "9" "39088517" "39088517" "subst" "0.0911738" "01804" "CNTNAP3_000004" "g.39088517C>A" "" "" "" "CNTNAP3(NM_033655.3):c.3123G>T (p.(Met1041Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39088520C>A" "" "likely benign" "" "0000538204" "0" "30" "9" "39133057" "39133057" "subst" "1.25979E-5" "01943" "CNTNAP3_000006" "g.39133057G>T" "" "" "" "CNTNAP3(NM_033655.3):c.1952C>A (p.P651Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39133060G>T" "" "likely benign" "" "0000538206" "0" "30" "9" "39149855" "39149855" "subst" "2.03828E-5" "01943" "CNTNAP3_000001" "g.39149855C>A" "" "" "" "CNTNAP3(NM_033655.3):c.1597G>T (p.A533S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39149858C>A" "" "likely benign" "" "0000622270" "0" "30" "9" "39133065" "39133065" "subst" "0.000270929" "01943" "CNTNAP3_000008" "g.39133065G>A" "" "" "" "CNTNAP3(NM_033655.3):c.1944C>T (p.S648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39133068G>A" "" "likely benign" "" "0000622271" "0" "50" "9" "39144313" "39144313" "subst" "8.09831E-5" "01943" "CNTNAP3_000009" "g.39144313G>A" "" "" "" "CNTNAP3(NM_033655.3):c.1680C>T (p.G560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39144316G>A" "" "VUS" "" "0000622272" "0" "50" "9" "39149884" "39149884" "subst" "7.18356E-5" "01943" "CNTNAP3_000010" "g.39149884G>T" "" "" "" "CNTNAP3(NM_033655.3):c.1568C>A (p.A523E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39149887G>T" "" "VUS" "" "0000684772" "0" "30" "9" "39102655" "39102655" "subst" "0.0112813" "00004" "CNTNAP3_000011" "g.39102655A>G" "frequency 0.030" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.39102658A>G" "" "likely benign" "" "0000804144" "0" "30" "9" "39085768" "39085768" "subst" "0.000152319" "01943" "CNTNAP3_000012" "g.39085768T>C" "" "" "" "CNTNAP3(NM_033655.3):c.3407A>G (p.N1136S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997900" "0" "50" "9" "39102523" "39102523" "subst" "4.21254E-5" "01804" "CNTNAP3_000013" "g.39102523C>T" "" "" "" "CNTNAP3(NM_033655.3):c.2726G>A (p.(Arg909His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037543" "0" "30" "9" "39088610" "39088610" "subst" "0.00403104" "01804" "CNTNAP3_000014" "g.39088610C>G" "" "" "" "CNTNAP3(NM_033655.5):c.3030G>C (p.(Met1010Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037544" "0" "30" "9" "39103742" "39103742" "subst" "0.00192234" "01804" "CNTNAP3_000015" "g.39103742A>C" "" "" "" "CNTNAP3(NM_033655.5):c.2535T>G (p.(Arg845=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037545" "0" "30" "9" "39176043" "39176043" "subst" "0.00170942" "01804" "CNTNAP3_000016" "g.39176043C>G" "" "" "" "CNTNAP3(NM_033655.5):c.974G>C (p.(Arg325Thr))" "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 CNTNAP3 ## 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}}" "0000471336" "00005431" "70" "2485" "0" "2485" "0" "c.2485G>C" "r.(2485g>c)" "p.(Val829Leu)" "16" "0000538202" "00005431" "30" "3123" "0" "3123" "0" "c.3123G>T" "r.(?)" "p.(Met1041Ile)" "" "0000538204" "00005431" "30" "1952" "0" "1952" "0" "c.1952C>A" "r.(?)" "p.(Pro651Gln)" "" "0000538206" "00005431" "30" "1597" "0" "1597" "0" "c.1597G>T" "r.(?)" "p.(Ala533Ser)" "" "0000622270" "00005431" "30" "1944" "0" "1944" "0" "c.1944C>T" "r.(?)" "p.(Ser648=)" "" "0000622271" "00005431" "50" "1680" "0" "1680" "0" "c.1680C>T" "r.(?)" "p.(Gly560=)" "" "0000622272" "00005431" "50" "1568" "0" "1568" "0" "c.1568C>A" "r.(?)" "p.(Ala523Glu)" "" "0000684772" "00005431" "30" "2594" "0" "2594" "0" "c.2594T>C" "r.(?)" "p.(Val865Ala)" "" "0000804144" "00005431" "30" "3407" "0" "3407" "0" "c.3407A>G" "r.(?)" "p.(Asn1136Ser)" "" "0000997900" "00005431" "50" "2726" "0" "2726" "0" "c.2726G>A" "r.(?)" "p.(Arg909His)" "" "0001037543" "00005431" "30" "3030" "0" "3030" "0" "c.3030G>C" "r.(?)" "p.(Met1010Ile)" "" "0001037544" "00005431" "30" "2535" "0" "2535" "0" "c.2535T>G" "r.(?)" "p.(=)" "" "0001037545" "00005431" "30" "974" "0" "974" "0" "c.974G>C" "r.(?)" "p.(Arg325Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000229989" "0000471336" "0000309870" "0000684772"