### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCDC160) # 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}}" "CCDC160" "coiled-coil domain containing 160" "X" "q26.2" "unknown" "NC_000023.10" "UD_136020647208" "" "https://www.LOVD.nl/CCDC160" "" "1" "37286" "347475" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CCDC160_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-16 17:35:17" "00000" "2024-08-28 13:16:32" ## 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}}" "00004571" "CCDC160" "coiled-coil domain containing 160" "001" "NM_001101357.1" "" "NP_001094827.1" "" "" "" "-321" "978" "978" "133371077" "133379808" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "04244" "MBS" "Moebius syndrome (MBS)" "" "157900" "" "" "" "00006" "2015-05-01 19:07:11" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00104567" "" "" "" "1" "" "01836" "" "" "M" "?" "France" "" "0" "" "" "" "" "00361934" "" "" "" "1" "" "00006" "{PMID:Tomas-Roca 2015:26068067}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00409866" "" "" "" "1" "" "03322" "{PMID:Masunaga 2022:36224347}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00104567" "00138" "00361934" "04244" "00409866" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 04244, 05517 ## Count = 3 "{{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}}" "0000082486" "00138" "00104567" "01836" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000257330" "04244" "00361934" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "Moebius syndrome" "0000301981" "05517" "00409866" "03322" "Familial, autosomal recessive" "" "see paper; ..." "" "" "skeletal dysplasia at born" "NANS" "" "" "" "SEMDG" "NANS-CDG" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105039" "00104567" "1" "01836" "01836" "2017-05-15 14:44:49" "" "" "SEQ-NG" "DNA" "blood" "" "0000363162" "00361934" "1" "00006" "00006" "2021-04-12 16:33:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411129" "00409866" "1" "03322" "03322" "2022-05-13 03:14:16" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000105039" "CCDC160" "0000105039" "DNAH10" "0000105039" "MTMR8" "0000105039" "SLC44A3" "0000105039" "UBAP2L" "0000363162" "CCDC160" "0000411129" "NANS" ## 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 = 8 "{{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}}" "0000170297" "20" "50" "X" "133379227" "133379227" "subst" "0" "01836" "CCDC160_000001" "g.133379227A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.134245197A>G" "" "VUS" "" "0000256466" "0" "50" "X" "133378987" "133378987" "subst" "0.000149199" "01943" "CCDC160_000002" "g.133378987A>G" "" "" "" "CCDC160(NM_001101357.2):c.157A>G (p.R53G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134244957A>G" "" "VUS" "" "0000763608" "0" "90" "X" "133379331" "133379331" "del" "0" "00006" "CCDC160_000005" "g.133379331del" "" "{PMID:Tomas-Roca 2015:26068067}" "" "501delA" "" "De novo" "" "" "0" "" "" "g.134245301del" "" "pathogenic" "" "0000867054" "0" "50" "X" "133378922" "133378922" "subst" "6.24076E-6" "01943" "CCDC160_000006" "g.133378922C>G" "" "" "" "CCDC160(NM_001353453.1):c.92C>G (p.S31C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867055" "0" "30" "X" "133379415" "133379415" "subst" "0" "01943" "CCDC160_000007" "g.133379415T>C" "" "" "" "CCDC160(NM_001353453.1):c.585T>C (p.D195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933161" "21" "30" "X" "133378987" "133378987" "subst" "0.000149199" "00006" "CCDC160_000002" "g.133378987A>G" "" "{PMID:Masunaga 2022:36224347}" "" "" "" "Germline" "" "" "0" "" "" "g.134244957A>G" "" "likely benign" "" "0000984462" "0" "30" "X" "133378944" "133378944" "subst" "7.30011E-5" "01804" "CCDC160_000008" "g.133378944A>G" "" "" "" "CCDC160(NM_001353453.2):c.114A>G (p.(Ala38=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006443" "0" "50" "X" "133379056" "133379056" "subst" "0" "01804" "CCDC160_000009" "g.133379056G>T" "" "" "" "CCDC160(NM_001101357.1):c.226G>T (p.(Glu76*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 CCDC160 ## Count = 8 "{{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}}" "0000170297" "00004571" "50" "397" "0" "397" "0" "c.397A>G" "r.(?)" "p.(Ile133Val)" "" "0000256466" "00004571" "50" "157" "0" "157" "0" "c.157A>G" "r.(?)" "p.(Arg53Gly)" "" "0000763608" "00004571" "90" "501" "0" "501" "0" "c.501del" "r.(?)" "p.(Glu167AspfsTer21)" "" "0000867054" "00004571" "50" "92" "0" "92" "0" "c.92C>G" "r.(?)" "p.(Ser31Cys)" "" "0000867055" "00004571" "30" "585" "0" "585" "0" "c.585T>C" "r.(?)" "p.(Asp195=)" "" "0000933161" "00004571" "30" "157" "0" "157" "0" "c.157A>G" "r.(?)" "p.(Arg53Gly)" "" "0000984462" "00004571" "30" "114" "0" "114" "0" "c.114A>G" "r.(?)" "p.(=)" "" "0001006443" "00004571" "50" "226" "0" "226" "0" "c.226G>T" "r.(?)" "p.(Glu76*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000105039" "0000170297" "0000363162" "0000763608" "0000411129" "0000933161"