### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDCA7) # 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}}" "CDCA7" "cell division cycle associated 7" "2" "q31.1" "unknown" "NG_047202.1" "UD_133490797046" "" "https://www.LOVD.nl/CDCA7" "" "1" "14628" "83879" "609937" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CDCA7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-28 16:56:59" "00000" "2022-05-09 15:51:19" ## 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}}" "00004805" "CDCA7" "transcript variant 1" "001" "NM_031942.4" "" "NP_114148.3" "" "" "" "-131" "2679" "1353" "174219561" "174233718" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02465" "MFM9" "myopathy, myofibrillar, 9, with early respiratory failure" "AD" "603689" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04273" "ICF" "immunodeficiency-centromeric instability-facial anomalies syndrome (ICF)" "" "" "" "" "" "00006" "2015-05-18 08:56:14" "" "" "04275" "ICF3" "immunodeficiency-centromeric instability-facial anomalies syndrome, type 3 (ICF-3)" "" "" "" "" "" "00006" "2015-05-21 10:28:18" "00006" "2021-12-11 13:56:28" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" "06458" "ICF3" "Immunodeficiency-centromeric instability-facial anomalies syndrome 3" "AR" "616910" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CDCA7" "04273" "CDCA7" "04275" "CDCA7" "06458" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00038729" "" "" "" "1" "" "01301" "{PMID:Thijssen 2015:26216346}" "2-generation family, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "26y" "0" "" "" "" "" "00038730" "" "" "" "1" "" "01301" "{PMID:Thijssen 2015:26216346}" "2-generation family, unaffected heterozygous carrier parents (suspected consanguineous)" "F" "?" "France" ">17y" "0" "" "" "" "" "00038732" "" "" "" "1" "" "01301" "{PMID:Thijssen 2015:26216346}" "2-generation family, unaffected heterozygous carrier parents" "F" "yes" "France" ">37y" "0" "" "" "" "" "00038733" "" "" "" "2" "" "01301" "{PMID:Thijssen 2015:26216346}" "male from 2-generation family D (2 affected sibs), unaffected heterozygous carrier parents" "M" "yes" "Turkey" ">10y" "0" "" "" "" "" "00038734" "" "" "00038733" "1" "" "01301" "{PMID:Thijssen 2015:26216346}" "female from 2-generation family D (2 affected sibs), unaffected heterozygous carrier parents" "F" "yes" "Turkey" ">03y" "0" "" "" "" "" "00058419" "" "" "" "24" "" "00515" "{PMID:Chinnery 2001:11310621}, {PMID:Pfeffer 2012:22577215}" "6-generation family, 24 affecteds (15F, 9M)" "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00334849" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00038729" "04275" "00038730" "04275" "00038732" "04275" "00038733" "04275" "00038734" "04275" "00058419" "02465" "00334849" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02465, 04273, 04275, 05793, 06458 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Infections/Recurrent}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000029118" "04275" "00038729" "01301" "Isolated (sporadic)" "" "facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia); IgG 2.8 g/l, IgA <0.04 g/l, IgM 0.23 g/l; cytogenetic abnormalities include stretching, multiradial configuration" "" "1960g" "yes" "" "" "" "motor" "yes" "" "" "" "" "" "0000029119" "04275" "00038730" "01301" "Isolated (sporadic)" "" "facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia, myocarditis, peritonitis); IgG 0.31 g/l, IgA 0.05 g/l, IgM <0.06g/l" "" "730G" "" "" "" "" "motor" "yes" "" "" "" "" "" "0000029120" "04275" "00038732" "01301" "Isolated (sporadic)" "" "no facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia, mastoiditis, meningitis); IgG 2 g/l, IgA 0.27 g/l, IgM 0.25 g/l; cytogenetic abnormalities include stretching" "" "1820g" "yes" "" "" "" "?" "no" "" "" "" "" "" "0000029121" "04275" "00038733" "01301" "Familial, autosomal recessive" "" "facial anomalies (HP:0001999), no gastrointestinal problems, infections (otitis); IgG 2.32 g/l, IgA <0.07 g/l, IgM 0.03 g/l; cytogenetic abnormalities include stretching, breaking, decondensation" "" "2800g" "yes" "" "" "" "no motor" "no" "" "" "" "" "" "0000029122" "04275" "00038734" "01301" "Familial, autosomal recessive" "" "facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (pneumonia, candida); IgG 1.11 g/l, IgA 0.06 g/l, IgM 0.04 g/l" "" "2250g" "yes" "" "" "" "no motor" "no" "" "" "" "" "" "0000045050" "02465" "00058419" "00515" "Familial, autosomal dominant" "" "hereditary myopathy with early respiratory failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000253246" "05793" "00334849" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000038964" "00038729" "1" "01301" "00006" "2015-05-29 11:22:07" "" "" "SEQ" "DNA" "" "" "0000038965" "00038730" "1" "01301" "00006" "2015-05-29 11:32:03" "" "" "SEQ" "DNA" "" "" "0000038966" "00038732" "1" "01301" "00006" "2015-05-29 11:38:59" "" "" "SEQ" "DNA" "" "" "0000038967" "00038733" "1" "01301" "00006" "2015-05-29 11:46:52" "" "" "SEQ" "DNA" "" "" "0000038968" "00038734" "1" "01301" "00006" "2015-05-29 11:54:06" "" "" "SEQ" "DNA" "" "" "0000058382" "00058419" "1" "00515" "00006" "2014-03-09 21:14:53" "00002" "2014-03-09 21:17:39" "SEQ;SEQ-NG" "DNA" "" "" "0000336079" "00334849" "1" "04011" "04011" "2021-03-02 03:23:09" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000038964" "CDCA7" "0000038965" "CDCA7" "0000038966" "CDCA7" "0000038967" "CDCA7" "0000038968" "CDCA7" "0000058382" "TTN" ## 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 = 17 "{{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}}" "0000066793" "3" "90" "2" "174231032" "174231032" "subst" "4.06445E-6" "01301" "CDCA7_000001" "g.174231032C>T" "" "{PMID:Thijssen 2015:26216346}" "" "NM_145810.2:c.820C>T (Arg274Cys)" "alpha-satellite hypomethylation not analysed" "Germline" "yes" "" "0" "" "" "g.173366304C>T" "" "pathogenic" "" "0000066794" "3" "90" "2" "174231093" "174231093" "subst" "0" "01301" "CDCA7_000002" "g.174231093G>T" "" "{PMID:Thijssen 2015:26216346}" "" "NM_145810.2:c.881G>T (Gly294Val)" "alpha-satellite hypomethylation" "Germline" "yes" "" "0" "" "" "g.173366365G>T" "" "pathogenic" "" "0000066795" "3" "90" "2" "174231123" "174231123" "subst" "1.21846E-5" "01301" "CDCA7_000003" "g.174231123G>A" "" "{PMID:Thijssen 2015:26216346}" "" "NM_145810.2:c.911G>A (Arg304His)" "alpha-satellite hypomethylation" "Germline" "yes" "" "0" "" "" "g.173366395G>A" "" "pathogenic" "" "0000066796" "3" "90" "2" "174231033" "174231033" "subst" "4.06392E-6" "01301" "CDCA7_000004" "g.174231033G>A" "" "{PMID:Thijssen 2015:26216346}" "" "NM_145810.2:c.821G>A (Arg274His)" "alpha-satellite hypomethylation" "Germline" "yes" "" "0" "" "" "g.173366305G>A" "" "pathogenic" "" "0000066797" "3" "90" "2" "174231033" "174231033" "subst" "4.06392E-6" "01301" "CDCA7_000004" "g.174231033G>A" "" "{PMID:Thijssen 2015:26216346}" "" "NM_145810.2:c.821G>A (Arg274His)" "alpha-satellite hypomethylation not analysed" "Germline" "yes" "" "0" "" "" "g.173366305G>A" "" "pathogenic" "" "0000096177" "0" "30" "2" "174232458" "174232458" "dup" "0" "00006" "CDCA7_000005" "g.174232458dup" "" "{PMID:Pfeffer 2012:22577215}" "" "174232452 insertion A +T" "" "Germline" "" "" "0" "" "" "g.173367730dup" "" "likely benign" "" "0000272899" "0" "30" "2" "174224132" "174224132" "subst" "0" "01943" "CDCA7_000006" "g.174224132C>T" "" "" "" "CDCA7(NM_031942.4):c.297C>T (p.V99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.173359404C>T" "" "likely benign" "" "0000272900" "0" "50" "2" "174228604" "174228604" "subst" "0" "01943" "CDCA7_000007" "g.174228604C>A" "" "" "" "CDCA7(NM_031942.4):c.680C>A (p.P227H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.173363876C>A" "" "VUS" "" "0000510270" "0" "50" "2" "174223463" "174223465" "del" "0" "01943" "CDCA7_000008" "g.174223463_174223465del" "" "" "" "CDCA7(NM_031942.4):c.45_47delGAA (p.K15del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.173358735_173358737del" "" "VUS" "" "0000510271" "0" "30" "2" "174228004" "174228004" "subst" "0" "01943" "CDCA7_000009" "g.174228004C>T" "" "" "" "CDCA7(NM_031942.4):c.435C>T (p.H145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.173363276C>T" "" "likely benign" "" "0000510272" "0" "30" "2" "174228209" "174228209" "subst" "0.00134602" "02326" "CDCA7_000010" "g.174228209G>A" "" "" "" "CDCA7(NM_031942.5):c.621+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.173363481G>A" "" "likely benign" "" "0000606354" "0" "30" "2" "174228144" "174228144" "subst" "0" "01943" "CDCA7_000012" "g.174228144A>G" "" "" "" "CDCA7(NM_031942.4):c.575A>G (p.N192S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.173363416A>G" "" "likely benign" "" "0000620777" "0" "30" "2" "174223463" "174223463" "subst" "0.000759897" "02326" "CDCA7_000011" "g.174223463G>A" "" "" "" "CDCA7(NM_031942.4):c.45G>A (p.K15=), CDCA7(NM_031942.5):c.45G>A (p.K15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.173358735G>A" "" "likely benign" "" "0000688402" "0" "30" "2" "174223463" "174223463" "subst" "0.000759897" "01943" "CDCA7_000011" "g.174223463G>A" "" "" "" "CDCA7(NM_031942.4):c.45G>A (p.K15=), CDCA7(NM_031942.5):c.45G>A (p.K15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000735034" "0" "70" "2" "174228080" "174228080" "subst" "2.84269E-5" "04011" "CDCA7_000013" "g.174228080C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000799846" "0" "30" "2" "174229568" "174229568" "subst" "0.000456347" "02326" "CDCA7_000014" "g.174229568A>C" "" "" "" "CDCA7(NM_031942.5):c.745A>C (p.R249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857866" "0" "30" "2" "174231004" "174231004" "subst" "4.30307E-6" "01943" "CDCA7_000015" "g.174231004T>C" "" "" "" "CDCA7(NM_031942.4):c.1036-7T>C" "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 CDCA7 ## Count = 17 "{{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}}" "0000066793" "00004805" "90" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353Cys)" "8" "0000066794" "00004805" "90" "1118" "0" "1118" "0" "c.1118G>T" "r.(?)" "p.(Gly373Val)" "8" "0000066795" "00004805" "90" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383His)" "8" "0000066796" "00004805" "90" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353His)" "8" "0000066797" "00004805" "90" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353His)" "8" "0000096177" "00004805" "30" "1419" "0" "1419" "0" "c.*66dup" "r.(?)" "p.(=)" "" "0000272899" "00004805" "30" "297" "0" "297" "0" "c.297C>T" "r.(?)" "p.(Val99=)" "" "0000272900" "00004805" "50" "680" "0" "680" "0" "c.680C>A" "r.(?)" "p.(Pro227His)" "" "0000510270" "00004805" "50" "45" "0" "47" "0" "c.45_47del" "r.(?)" "p.(Lys15del)" "" "0000510271" "00004805" "30" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(His145=)" "" "0000510272" "00004805" "30" "621" "19" "621" "19" "c.621+19G>A" "r.(=)" "p.(=)" "" "0000606354" "00004805" "30" "575" "0" "575" "0" "c.575A>G" "r.(?)" "p.(Asn192Ser)" "" "0000620777" "00004805" "30" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Lys15=)" "" "0000688402" "00004805" "30" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Lys15=)" "" "0000735034" "00004805" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "" "0000799846" "00004805" "30" "745" "0" "745" "0" "c.745A>C" "r.(?)" "p.(Arg249=)" "" "0000857866" "00004805" "30" "1036" "-7" "1036" "-7" "c.1036-7T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000038964" "0000066793" "0000038965" "0000066794" "0000038966" "0000066795" "0000038967" "0000066796" "0000038968" "0000066797" "0000058382" "0000096177" "0000336079" "0000735034"