### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DMRTA2) # 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}}" "DMRTA2" "DMRT-like family A2" "1" "p33" "unknown" "NC_000001.10" "UD_136086602759" "" "http://www.LOVD.nl/DMRTA2" "" "1" "13908" "63950" "614804" "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/DMRTA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-10-13 22:31:48" "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}}" "00006503" "DMRTA2" "DMRT-like family A2" "001" "NM_032110.2" "" "NP_115486.1" "" "" "" "-340" "2743" "1629" "50889119" "50883223" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00052056" "" "" "" "1" "" "00696" "" "" "M" "yes" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00052056" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038677" "00198" "00052056" "00696" "Familial, autosomal recessive" "" "fronto-parietal pachygyria, genesis corpus callosum, progressive severe microcephaly" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000052003" "00052056" "1" "00696" "00696" "2015-10-13 10:36:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000052004" "00052056" "1" "00696" "00696" "2015-10-13 10:52:24" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000052004" "DMRTA2" ## 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 = 9 "{{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}}" "0000081444" "3" "70" "1" "50884774" "50884774" "del" "0" "00696" "DMRTA2_000001" "g.50884774del" "" "submitted for publication" "" "1197delG" "" "Germline" "yes" "" "0" "" "" "g.50419102del" "" "likely pathogenic" "" "0000275108" "0" "30" "1" "50887044" "50887044" "subst" "0.00207536" "01943" "DMRTA2_000005" "g.50887044T>C" "" "" "" "DMRTA2(NM_032110.3):c.165A>G (p.P55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50421372T>C" "" "likely benign" "" "0000275109" "0" "50" "1" "50885103" "50885103" "subst" "0" "01943" "DMRTA2_000004" "g.50885103G>C" "" "" "" "DMRTA2(NM_032110.3):c.863C>G (p.S288C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50419431G>C" "" "VUS" "" "0000320819" "0" "50" "1" "50884536" "50884536" "subst" "0.0069601" "01804" "DMRTA2_000002" "g.50884536C>T" "" "" "" "DMRTA2(NM_032110.2):c.1430G>A (p.(Ser477Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50418864C>T" "" "VUS" "" "0000320820" "0" "50" "1" "50884777" "50884778" "ins" "0" "01804" "DMRTA2_000003" "g.50884777_50884778insAGC" "" "" "" "DMRTA2(NM_032110.2):c.1190_1191insTGC (p.(Ala397dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50419105_50419106insAGC" "" "VUS" "" "0000507798" "0" "50" "1" "50884431" "50884431" "subst" "0" "01943" "DMRTA2_000008" "g.50884431C>T" "" "" "" "DMRTA2(NM_032110.3):c.1535G>A (p.R512H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50418759C>T" "" "VUS" "" "0000991330" "0" "50" "1" "50886896" "50886896" "subst" "0" "01804" "DMRTA2_000016" "g.50886896G>T" "" "" "" "DMRTA2(NM_032110.2):c.313C>A (p.(Arg105Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991331" "0" "50" "1" "50887013" "50887013" "subst" "0" "01804" "DMRTA2_000017" "g.50887013G>A" "" "" "" "DMRTA2(NM_032110.2):c.196C>T (p.(Arg66Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032116" "0" "50" "1" "50884803" "50884803" "subst" "0" "01804" "DMRTA2_000018" "g.50884803T>G" "" "" "" "DMRTA2(NM_032110.3):c.1163A>C (p.(Asp388Ala))" "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 DMRTA2 ## Count = 9 "{{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}}" "0000081444" "00006503" "70" "1197" "0" "1197" "0" "c.1197del" "r.(?)" "p.(Pro400Leufs*33)" "3" "0000275108" "00006503" "30" "165" "0" "165" "0" "c.165A>G" "r.(?)" "p.(Pro55=)" "" "0000275109" "00006503" "50" "863" "0" "863" "0" "c.863C>G" "r.(?)" "p.(Ser288Cys)" "" "0000320819" "00006503" "50" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Ser477Asn)" "" "0000320820" "00006503" "50" "1190" "0" "1191" "0" "c.1190_1191insTGC" "r.(?)" "p.(Ala397dup)" "" "0000507798" "00006503" "50" "1535" "0" "1535" "0" "c.1535G>A" "r.(?)" "p.(Arg512His)" "" "0000991330" "00006503" "50" "313" "0" "313" "0" "c.313C>A" "r.(?)" "p.(Arg105Ser)" "" "0000991331" "00006503" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Trp)" "" "0001032116" "00006503" "50" "1163" "0" "1163" "0" "c.1163A>C" "r.(?)" "p.(Asp388Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000052003" "0000081444" "0000052004" "0000081444"