### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MCM5) # 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}}" "MCM5" "minichromosome maintenance complex component 5" "22" "q13.1-q13.2" "unknown" "NC_000022.10" "UD_132457119341" "" "http://www.LOVD.nl/MCM5" "" "1" "6948" "4174" "602696" "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/MCM5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-26 17:25:09" "00000" "2025-11-01 13:22:20" ## 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}}" "00011910" "MCM5" "minichromosome maintenance complex component 5" "001" "NM_006739.3" "" "NP_006730.2" "" "" "" "-94" "2452" "2205" "35796116" "35820495" "" "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}}" "05169" "MGORS" "Meier-Gorlin syndrome (MGORS)" "" "" "" "" "" "00006" "2016-05-26 15:16:56" "" "" "06541" "MGORS8" "?Meier-Gorlin syndrome 8" "AR" "617564" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MCM5" "06541" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00081271" "" "" "" "1" "" "01232" "" "" "M" "no" "Italy" "" "0" "y" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00081271" "05169" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05169, 06541 ## 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}}" "0000061473" "05169" "00081271" "01232" "Familial, autosomal recessive" "" "- Growth parameters below the 3rd centile; no microcephaly.\r\nNormal Psychomotor development and brain NMR." "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081382" "00081271" "1" "01232" "01232" "2016-09-28 12:28:59" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 10 "{{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}}" "0000130511" "11" "90" "22" "35806834" "35806835" "del" "8.12288E-6" "01232" "MCM5_000001" "g.35806834_35806835del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35410841_35410842del" "" "pathogenic" "" "0000130512" "21" "90" "22" "35812381" "35812381" "subst" "0" "01232" "MCM5_000002" "g.35812381C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35416388C>T" "" "pathogenic" "" "0000291607" "0" "50" "22" "35819252" "35819252" "subst" "1.24357E-5" "01943" "MCM5_000004" "g.35819252G>A" "" "" "" "MCM5(NM_006739.4):c.2021G>A (p.R674H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35423259G>A" "" "VUS" "" "0000291608" "0" "50" "22" "35806865" "35806865" "subst" "4.07957E-6" "01943" "MCM5_000003" "g.35806865T>G" "" "" "" "MCM5(NM_006739.4):c.881T>G (p.I294S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35410872T>G" "" "VUS" "" "0000571857" "0" "30" "22" "35796605" "35796605" "subst" "0.00621408" "01804" "MCM5_000005" "g.35796605C>T" "" "" "" "MCM5(NM_006739.3):c.167+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35400612C>T" "" "likely benign" "" "0000951597" "0" "50" "22" "35811877" "35811877" "subst" "0.000182783" "01804" "MCM5_000007" "g.35811877G>C" "" "" "" "MCM5(NM_006739.3):c.1259G>C (p.(Arg420Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043842" "0" "50" "22" "35799534" "35799534" "subst" "4.0825E-6" "01804" "MCM5_000008" "g.35799534A>T" "" "" "" "MCM5(NM_006739.4):c.422A>T (p.(Lys141Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043843" "0" "50" "22" "35808551" "35808551" "subst" "0" "01804" "MCM5_000009" "g.35808551G>A" "" "" "" "MCM5(NM_006739.4):c.968G>A (p.(Arg323His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043844" "0" "50" "22" "35816001" "35816001" "subst" "4.98103E-5" "01804" "MCM5_000010" "g.35816001G>A" "" "" "" "MCM5(NM_006739.4):c.1828G>A (p.(Val610Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057133" "0" "50" "22" "35802547" "35802547" "subst" "0" "01804" "MCM5_000011" "g.35802547C>T" "" "" "" "MCM5(NM_006739.4):c.425C>T (p.(Ser142Leu))" "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 MCM5 ## Count = 10 "{{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}}" "0000130511" "00011910" "90" "850" "0" "851" "0" "c.850_851del" "r.(?)" "p.(Arg284Glyfs*49)" "7" "0000130512" "00011910" "90" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Thr466Ile)" "11" "0000291607" "00011910" "50" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674His)" "" "0000291608" "00011910" "50" "881" "0" "881" "0" "c.881T>G" "r.(?)" "p.(Ile294Ser)" "" "0000571857" "00011910" "30" "167" "7" "167" "7" "c.167+7C>T" "r.(=)" "p.(=)" "" "0000951597" "00011910" "50" "1259" "0" "1259" "0" "c.1259G>C" "r.(?)" "p.(Arg420Thr)" "" "0001043842" "00011910" "50" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Lys141Met)" "" "0001043843" "00011910" "50" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323His)" "" "0001043844" "00011910" "50" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Val610Met)" "" "0001057133" "00011910" "50" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Ser142Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000081382" "0000130511" "0000081382" "0000130512"