### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SMC1B)
# 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}}"
"SMC1B"	"structural maintenance of chromosomes 1B"	"22"	"q13"	"unknown"	"NC_000022.10"	"UD_132463675161"	""	"http://www.LOVD.nl/SMC1B"	""	"1"	"11112"	"27127"	"608685"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/SMC1B_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-12-02 06:50:43"	"00000"	"2025-07-08 13:22:38"


## 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}}"
"00019431"	"SMC1B"	"structural maintenance of chromosomes 1B"	"001"	"NM_148674.3"	""	"NP_683515.3"	""	""	""	"-52"	"4201"	"3708"	"45809500"	"45739944"	""	"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}}"
"00397"	"DBQD2"	"dysplasia, Desbuquois, type 2 (DBQD-2)"	"AR"	"615777"	""	""	""	"00006"	"2014-06-03 13:15:44"	"00006"	"2021-12-10 21:51:32"


## 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}}"
"00016858"	""	""	""	"2"	""	"00705"	"{PMID:Bui 2014:24581741}"	"2-generation family, 2 affecteds (F,  M), unaffected heterozygous carrier parents"	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00016859"	""	""	"00016858"	"1"	""	"00705"	"{PMID:Bui 2014:24581741}"	"brother of 24581741-Fam1.1"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00016858"	"00397"
"00016859"	"00397"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00397
## Count = 2
"{{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}}"
"0000015260"	"00397"	"00016858"	"00705"	"Familial, autosomal recessive"	"24y"	"birth heigth 37cm; hyperlaxity, respiratory distress, hypotonia, flat face, monkey wrench of the femoral neck, epiphyseal dysplasia, knee dislocation, advanced carpal bone age; 24y heigth 111.5 cm (<-6), mild intellectual disability"	""	""	""	""	""	""	""	""	""
"0000015261"	"00397"	"00016859"	"00705"	"Familial, autosomal recessive"	"20y"	"birth heigth 41 cm; hypotonia, narrow, thorax, hip dislocation, flat face, monkey wrench femoral neck, epiphyseal dysplasia, knee dislocation, advanced carpal bone age; 20y height 121 cm \r\n(<-6), intellectual disability"	""	""	""	""	""	""	""	""	""


## 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}}"
"0000016826"	"00016858"	"1"	"00705"	"00705"	"2014-06-03 20:10:07"	"00006"	"2015-12-02 06:58:55"	"SEQ"	"DNA"	""	""
"0000016827"	"00016859"	"1"	"00705"	"00705"	"2014-06-04 15:02:35"	"00006"	"2015-12-02 06:46:38"	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{geneid}}"
"0000016826"	"SMC1B"
"0000016826"	"XYLT1"
"0000016827"	"SMC1B"
"0000016827"	"XYLT1"


## 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 = 7
"{{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}}"
"0000084868"	"3"	"70"	"22"	"45809438"	"45809438"	"subst"	"0"	"00006"	"SMC1B_000001"	"g.45809438A>C"	""	"{PMID:Bui 2014:24581741}"	""	""	"probably not associated with disease phenotype"	"Germline"	""	""	"0"	""	""	"g.45413557A>C"	""	"likely pathogenic"	""
"0000084869"	"3"	"90"	"22"	"45809438"	"45809438"	"subst"	"0"	"00006"	"SMC1B_000001"	"g.45809438A>C"	""	"{PMID:Bui 2014:24581741}"	""	""	"probably not associated with disease phenotype"	"Germline"	""	""	"0"	""	""	"g.45413557A>C"	""	"pathogenic"	""
"0000329082"	"0"	"50"	"22"	"45779397"	"45779397"	"subst"	"5.35411E-5"	"01804"	"SMC1B_000002"	"g.45779397C>G"	""	""	""	"SMC1B(NM_148674.3):c.2008G>C (p.(Glu670Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45383517C>G"	""	"VUS"	""
"0000329083"	"0"	"50"	"22"	"45779406"	"45779406"	"subst"	"0"	"01804"	"SMC1B_000003"	"g.45779406C>A"	""	""	""	"SMC1B(NM_148674.3):c.1999G>T (p.(Asp667Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45383526C>A"	""	"VUS"	""
"0000681911"	"0"	"30"	"22"	"45779460"	"45779460"	"subst"	"0"	"01943"	"SMC1B_000004"	"g.45779460A>C"	""	""	""	"SMC1B(NM_148674.5):c.1945T>G (p.S649A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001046824"	"0"	"50"	"22"	"45755791"	"45755791"	"subst"	"2.03259E-5"	"02325"	"SMC1B_000005"	"g.45755791A>T"	""	""	""	"SMC1B(NM_148674.5):c.2756T>A (p.L919Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046825"	"0"	"50"	"22"	"45795121"	"45795121"	"subst"	"2.03135E-5"	"02325"	"SMC1B_000006"	"g.45795121C>T"	""	""	""	"SMC1B(NM_148674.5):c.967G>A (p.E323K)"	"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 SMC1B
## Count = 7
"{{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}}"
"0000084868"	"00019431"	"70"	"11"	"0"	"11"	"0"	"c.11T>G"	"r.(?)"	"p.(Leu4Arg)"	"1"
"0000084869"	"00019431"	"90"	"11"	"0"	"11"	"0"	"c.11T>G"	"r.(?)"	"p.(Leu4Arg)"	"1"
"0000329082"	"00019431"	"50"	"2008"	"0"	"2008"	"0"	"c.2008G>C"	"r.(?)"	"p.(Glu670Gln)"	""
"0000329083"	"00019431"	"50"	"1999"	"0"	"1999"	"0"	"c.1999G>T"	"r.(?)"	"p.(Asp667Tyr)"	""
"0000681911"	"00019431"	"30"	"1945"	"0"	"1945"	"0"	"c.1945T>G"	"r.(?)"	"p.(Ser649Ala)"	""
"0001046824"	"00019431"	"50"	"2756"	"0"	"2756"	"0"	"c.2756T>A"	"r.(?)"	"p.(Leu919Gln)"	""
"0001046825"	"00019431"	"50"	"967"	"0"	"967"	"0"	"c.967G>A"	"r.(?)"	"p.(Glu323Lys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000016826"	"0000084869"
"0000016827"	"0000084868"