### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SMC5)
# 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}}"
"SMC5" "structural maintenance of chromosomes 5" "9" "q21.11" "unknown" "NC_000009.11" "UD_132585774529" "" "https://www.LOVD.nl/SMC5" "" "1" "20465" "23137" "609386" "1" "1" "1" "1" "Linked to syndromic microcephaly by Ullah ASHG2020.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SMC5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-31 08:55:00" "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}}"
"00019435" "SMC5" "structural maintenance of chromosomes 5" "001" "NM_015110.3" "" "NP_055925.2" "" "" "" "-117" "5848" "3306" "72873878" "72969789" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"SMC5" "05421"
## 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}}"
"00315968" "" "" "" "1" "" "00006" "Ullah ASHG2020" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" ""
"00315969" "" "" "" "1" "" "00006" "Ullah ASHG2020" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" ""
"00315970" "" "" "" "2" "" "00006" "Ullah ASHG2020" "2-generation family, 2 affected brothers, unaffected parents" "M" "" "" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}" "{{diseaseid}}"
"00315968" "05421"
"00315969" "05421"
"00315970" "05421"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05421
## 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}}"
"0000239713" "05421" "00315968" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "syndromic microcephaly"
"0000239714" "05421" "00315969" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "syndromic microcephaly"
"0000239715" "05421" "00315970" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "syndromic microcephaly"
## 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}}"
"0000317150" "00315968" "1" "00006" "00006" "2020-10-30 22:33:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317151" "00315969" "1" "00006" "00006" "2020-10-30 22:33:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317152" "00315970" "1" "00006" "00006" "2020-10-30 22:33:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{geneid}}"
"0000317150" "SMC5"
"0000317151" "SMC5"
"0000317152" "SMC5"
## 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}}"
"0000699353" "1" "90" "9" "72912941" "72912943" "del" "0" "00006" "SMC5_000002" "g.72912941_72912943del" "" "Ullah ASHG2020" "" "R372del" "" "Germline" "" "" "0" "" "" "g.70298025_70298027del" "" "pathogenic (recessive)" ""
"0000699354" "2" "90" "9" "72913101" "72913101" "subst" "4.06967E-6" "00006" "SMC5_000003" "g.72913101C>T" "" "Faundes ASHG2020" "" "R425*" "" "De novo" "" "" "0" "" "" "g.70298185C>T" "" "pathogenic (dominant)" ""
"0000699355" "3" "90" "9" "72965108" "72965108" "subst" "4.06752E-6" "00006" "SMC5_000001" "g.72965108C>A" "" "Faundes ASHG2020" "" "H990D" "" "De novo" "" "" "0" "" "" "g.70350192C>A" "" "pathogenic (dominant)" ""
"0000699356" "3" "90" "9" "72965108" "72965108" "subst" "4.06752E-6" "00006" "SMC5_000001" "g.72965108C>A" "" "{PMID:Reghan Foley 2020:32403198}" "" "H990D" "" "De novo" "" "" "0" "" "" "g.70350192C>A" "" "pathogenic (recessive)" ""
"0000722555" "0" "30" "9" "72882836" "72882836" "subst" "0.00056299" "01943" "SMC5_000004" "g.72882836T>C" "" "" "" "SMC5(NM_015110.4):c.328-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000722556" "0" "50" "9" "72913085" "72913085" "subst" "8.13332E-6" "01943" "SMC5_000005" "g.72913085C>T" "" "" "" "SMC5(NM_015110.4):c.1257C>T (p.G419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978753" "0" "30" "9" "72874183" "72874183" "subst" "0.00252225" "01804" "SMC5_000006" "g.72874183A>C" "" "" "" "SMC5(NM_015110.4):c.185+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000978754" "0" "30" "9" "72879212" "72879212" "subst" "0" "01804" "SMC5_000007" "g.72879212T>A" "" "" "" "SMC5(NM_015110.4):c.186-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001037568" "0" "50" "9" "72879251" "72879251" "subst" "0" "01804" "SMC5_000008" "g.72879251C>T" "" "" "" "SMC5(NM_015110.4):c.217C>T (p.(Pro73Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001037569" "0" "30" "9" "72962963" "72962963" "subst" "2.59492E-5" "01804" "SMC5_000009" "g.72962963G>A" "" "" "" "SMC5(NM_015110.4):c.2889+9G>A" "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 SMC5
## 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}}"
"0000699353" "00019435" "90" "1113" "0" "1115" "0" "c.1113_1115del" "r.(?)" "p.(Arg372del)" ""
"0000699354" "00019435" "90" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" ""
"0000699355" "00019435" "90" "2968" "0" "2968" "0" "c.2968C>A" "r.(?)" "p.(His990Asn)" ""
"0000699356" "00019435" "90" "2968" "0" "2968" "0" "c.2968C>A" "r.(?)" "p.(His990Asn)" ""
"0000722555" "00019435" "30" "328" "-3" "328" "-3" "c.328-3T>C" "r.spl?" "p.?" ""
"0000722556" "00019435" "50" "1257" "0" "1257" "0" "c.1257C>T" "r.(?)" "p.(Gly419=)" ""
"0000978753" "00019435" "30" "185" "4" "185" "4" "c.185+4A>C" "r.spl?" "p.?" ""
"0000978754" "00019435" "30" "186" "-8" "186" "-8" "c.186-8T>A" "r.(=)" "p.(=)" ""
"0001037568" "00019435" "50" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Pro73Ser)" ""
"0001037569" "00019435" "30" "2889" "9" "2889" "9" "c.2889+9G>A" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}" "{{variantid}}"
"0000317150" "0000699353"
"0000317150" "0000699354"
"0000317151" "0000699355"
"0000317152" "0000699356"