### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DMC1) # 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}}" "DMC1" "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)" "22" "q13.1" "unknown" "NG_017203.1" "UD_132085431550" "" "https://www.LOVD.nl/DMC1" "" "1" "2927" "11144" "602721" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-16 23:02:03" "00000" "2020-07-17 13:26:21" ## 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}}" "00006493" "DMC1" "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)" "001" "NM_007068.2" "" "NP_008999.2" "" "" "" "-175" "2094" "1023" "38966189" "38914954" "" "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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" ## 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}}" "00403093" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Algeria" "" "0" "" "" "" "P0352" "00403094" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Algeria" "" "0" "" "" "" "P0082" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00403093" "00201" "00403094" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201 ## 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}}" "0000295840" "00201" "00403093" "00006" "Familial, autosomal recessive" "" "left/right testis volume >15/>15 mL; testis meiotic spermatogenic arrest; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "" "non-obstructive azoospermia" "0000295841" "00201" "00403094" "00006" "Familial, autosomal recessive" "" "left/right testis volume 10-15/10-15 mL; FSH 9 IU/L; testis meiotic spermatogenic arrest; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "" "non-obstructive azoospermia" ## 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}}" "0000404334" "00403093" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404335" "00403094" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000404334" "DMC1" "0000404335" "DMC1" ## 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 = 3 "{{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}}" "0000572073" "0" "50" "22" "38964206" "38964206" "subst" "5.6863E-5" "01804" "DMC1_000001" "g.38964206C>T" "" "" "" "DMC1(NM_001278208.1):c.51+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38568201C>T" "" "VUS" "" "0000840004" "3" "70" "22" "38951377" "38951377" "subst" "0" "00006" "DMC1_000003" "g.38951377T>C" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_007068.4:c.364A>G" "" "Germline" "" "" "0" "" "" "g.38555372T>C" "" "likely pathogenic (recessive)" "" "0000840005" "3" "70" "22" "38917706" "38917706" "subst" "0" "00006" "DMC1_000002" "g.38917706G>T" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_007068.4:c.860C>A" "" "Germline" "" "" "0" "" "" "g.38521701G>T" "" "likely pathogenic (recessive)" "" ## 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 DMC1 ## Count = 3 "{{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}}" "0000572073" "00006493" "50" "51" "5" "51" "5" "c.51+5G>A" "r.spl?" "p.?" "" "0000840004" "00006493" "70" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Thr122Ala)" "" "0000840005" "00006493" "70" "860" "0" "860" "0" "c.860C>A" "r.(?)" "p.(Pro287His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000404334" "0000840004" "0000404335" "0000840005"