### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NAGLU) # 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}}" "NAGLU" "N-acetyl-alpha-glucosaminidase" "17" "q21.2" "unknown" "NG_011552.1" "UD_144476928329" "" "" "" "1" "7632" "4669" "609701" "1" "0" "0" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-17 08:23:23" "" "" "00002" "2021-05-10 17:37:57" ## 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}}" "00000133" "NAGLU" "N-acetylglucosaminidase, alpha" "001" "NM_000263.3" "" "NP_000254.2" "" "" "" "-340" "2443" "2232" "40687951" "40696467" "00001" "2020-12-17 00:38:10" "" "" ## 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}}" "00004" "MPS IIIB" "Mucopolysaccharidosis type IIIB" "AR" "252920" "" "" "" "00001" "2020-12-16 02:16:59" "00001" "2020-12-19 04:29:31" "00008" "MPS IVA" "Mucopolysaccharidosis type IVA" "AR" "253000" "" "" "" "00001" "2020-12-16 05:57:22" "00001" "2020-12-19 04:30:31" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NAGLU" "00004" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Origin/Geographic}}" "{{Individual/Consanguinity}}" "00000013" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000020" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000056" "" "" "" "1" "" "00001" "" "" "M" "Iran" "no" "00000094" "" "" "" "1" "" "00001" "" "" "F" "Iran" "" "00000105" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000110" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000143" "" "" "" "1" "" "00001" "" "" "M" "Iran" "no" "00000159" "" "" "" "1" "" "00001" "" "" "F" "Iran" "" "00000192" "" "" "" "1" "" "00001" "" "" "F" "Iran" "no" "00000205" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000210" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000217" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000221" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000242" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000258" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000266" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00000013" "00004" "00000020" "00004" "00000056" "00004" "00000094" "00004" "00000105" "00004" "00000110" "00004" "00000143" "00004" "00000159" "00004" "00000192" "00004" "00000205" "00008" "00000210" "00004" "00000217" "00004" "00000221" "00004" "00000242" "00004" "00000258" "00004" "00000266" "00004" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00004, 00008 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000014" "00000013" "1" "00001" "00001" "2020-12-17 08:26:08" "" "" "SEQ-NG" "DNA" "0000000022" "00000020" "1" "00001" "00001" "2020-12-18 20:22:24" "" "" "SEQ-NG" "DNA" "0000000059" "00000056" "1" "00001" "00001" "2020-12-20 05:55:17" "" "" "SEQ-NG" "DNA" "0000000097" "00000094" "1" "00001" "00001" "2020-12-22 09:02:24" "" "" "SEQ-NG" "DNA" "0000000108" "00000105" "1" "00001" "00001" "2020-12-23 08:41:44" "" "" "SEQ-NG" "DNA" "0000000113" "00000110" "1" "00001" "00001" "2020-12-23 13:54:05" "" "" "SEQ-NG" "DNA" "0000000146" "00000143" "1" "00001" "00001" "2020-12-24 23:53:57" "" "" "SEQ-NG" "DNA" "0000000163" "00000159" "1" "00001" "00001" "2020-12-26 01:47:49" "" "" "SEQ-NG" "DNA" "0000000196" "00000192" "1" "00001" "00001" "2020-12-27 01:26:56" "" "" "SEQ-NG" "DNA" "0000000209" "00000205" "1" "00001" "00001" "2020-12-27 21:17:27" "" "" "SEQ" "DNA" "0000000213" "00000210" "1" "00001" "00001" "2020-12-27 22:47:55" "" "" "SEQ" "DNA" "0000000220" "00000217" "1" "00001" "00001" "2020-12-28 00:40:59" "" "" "SEQ-NG" "DNA" "0000000224" "00000221" "1" "00001" "00001" "2020-12-28 04:49:15" "" "" "SEQ" "DNA" "0000000245" "00000242" "1" "00001" "00001" "2020-12-29 04:13:26" "" "" "SEQ-NG" "DNA" "0000000261" "00000258" "1" "00001" "00001" "2020-12-29 20:45:00" "" "" "SEQ-NG" "DNA" "0000000269" "00000266" "1" "00001" "00001" "2020-12-30 03:01:44" "" "" "SEQ-NG" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000000014" "NAGLU" "0000000022" "NAGLU" "0000000059" "NAGLU" "0000000097" "NAGLU" "0000000108" "NAGLU" "0000000113" "NAGLU" "0000000146" "NAGLU" "0000000163" "NAGLU" "0000000196" "NAGLU" "0000000209" "NAGLU" "0000000213" "NAGLU" "0000000220" "NAGLU" "0000000224" "NAGLU" "0000000245" "NAGLU" "0000000261" "NAGLU" "0000000269" "NAGLU" ## 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 = 18 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Reference}}" "0000000219" "3" "07" "17" "40690744" "40690744" "subst" "0" "00001" "NAGLU_000001" "g.40690744C>A" "" "0000000229" "3" "00" "17" "40696008" "40696008" "subst" "0" "00001" "NAGLU_000002" "g.40696008C>T" "" "0000000268" "3" "00" "17" "40695718" "40695718" "subst" "0.000045109" "00001" "NAGLU_000003" "g.40695718G>A" "" "0000000309" "3" "00" "17" "40688549" "40688549" "subst" "0" "00001" "NAGLU_000004" "g.40688549G>C" "" "0000000323" "3" "00" "17" "40689512" "40689512" "del" "0" "00001" "NAGLU_000005" "g.40689512delT" "" "0000000328" "3" "00" "17" "40695446" "40695446" "subst" "0" "00001" "NAGLU_000006" "g.40695446G>A" "" "0000000361" "1" "00" "17" "40689489" "40689489" "subst" "0" "00001" "NAGLU_000007" "g.40689489G>A" "" "0000000362" "2" "00" "17" "40695894" "40695894" "subst" "0" "00001" "NAGLU_000008" "g.40695894C>T" "" "0000000379" "3" "00" "17" "40688549" "40688549" "subst" "0" "00001" "NAGLU_000004" "g.40688549G>C" "" "0000000415" "3" "00" "17" "40690433" "40690433" "subst" "0.00000406177" "00001" "NAGLU_000009" "g.40690433G>A" "" "0000000430" "3" "00" "17" "40690359" "40690360" "del" "0" "00001" "NAGLU_000010" "g.40690359_40690360delGT" "" "0000000434" "3" "00" "17" "40695468" "40695468" "subst" "0" "00001" "NAGLU_000011" "g.40695468C>T" "" "0000000441" "3" "00" "17" "40695468" "40695468" "subst" "0" "00001" "NAGLU_000011" "g.40695468C>T" "" "0000000445" "3" "00" "17" "40693137" "40693137" "subst" "0.00000406227" "00001" "NAGLU_000012" "g.40693137G>A" "" "0000000468" "1" "00" "17" "40695970" "40695970" "subst" "0" "00001" "NAGLU_000013" "g.40695970G>A" "" "0000000469" "2" "00" "17" "40688549" "40688549" "subst" "0" "00001" "NAGLU_000004" "g.40688549G>C" "" "0000000485" "3" "00" "17" "40690432" "40690432" "subst" "0.00000406204" "00001" "NAGLU_000014" "g.40690432C>T" "" "0000000493" "3" "00" "17" "40695408" "40695408" "subst" "0.00000428578" "00001" "NAGLU_000015" "g.40695408G>C" "" ## 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 NAGLU ## Count = 18 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Clinicalclassification}}" "0000000219" "00000133" "07" "735" "0" "735" "0" "c.735C>A" "" "p.(Phe245Leu)" "r.(?)" "VUS" "0000000229" "00000133" "00" "1984" "0" "1984" "0" "c.1984C>T" "" "p.(Gln662*)" "r.(?)" "pathogenic" "0000000268" "00000133" "00" "1694" "0" "1694" "0" "c.1694G>A" "" "p.(Arg565Gln)" "r.(?)" "pathogenic" "0000000309" "00000133" "00" "259" "0" "259" "0" "c.259G>C" "" "p.(Ala87Pro)" "r.(?)" "VUS" "0000000323" "00000133" "00" "480" "0" "480" "0" "c.480delT" "" "p.(Asn160Lysfs*25)" "r.(?)" "pathogenic" "0000000328" "00000133" "00" "1422" "0" "1422" "0" "c.1422G>A" "" "p.(Trp474*)" "r.(?)" "pathogenic" "0000000361" "00000133" "00" "457" "0" "457" "0" "c.457G>A" "" "p.(Glu153Lys)" "r.(?)" "likely pathogenic" "0000000362" "00000133" "00" "1870" "0" "1870" "0" "c.1870C>T" "" "p.(Gln624*)" "r.(?)" "pathogenic" "0000000379" "00000133" "00" "259" "0" "259" "0" "c.259G>C" "" "p.(Ala87Pro)" "r.(?)" "VUS" "0000000415" "00000133" "00" "608" "0" "608" "0" "c.608G>A" "" "p.(Arg203Gln)" "r.(?)" "VUS" "0000000430" "00000133" "00" "534" "0" "535" "0" "c.534_535delGT" "" "p.(Tyr179Profs*12)" "r.(?)" "pathogenic" "0000000434" "00000133" "00" "1444" "0" "1444" "0" "c.1444C>T" "" "p.(Arg482Trp)" "r.(?)" "pathogenic" "0000000441" "00000133" "00" "1444" "0" "1444" "0" "c.1444C>T" "" "p.(Arg482Trp)" "r.(?)" "pathogenic" "0000000445" "00000133" "00" "934" "0" "934" "0" "c.934G>A" "" "p.(Asp312Asn)" "r.(?)" "pathogenic" "0000000468" "00000133" "00" "1946" "0" "1946" "0" "c.1946G>A" "" "p.(Trp649*)" "r.(?)" "pathogenic" "0000000469" "00000133" "00" "259" "0" "259" "0" "c.259G>C" "" "p.(Ala87Pro)" "r.(?)" "VUS" "0000000485" "00000133" "00" "607" "0" "607" "0" "c.607C>T" "" "p.(Arg203*)" "r.(?)" "pathogenic" "0000000493" "00000133" "00" "1384" "0" "1384" "0" "c.1384G>C" "" "p.(Gly462Arg)" "r.(?)" "VUS" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000000014" "0000000219" "0000000022" "0000000229" "0000000059" "0000000268" "0000000097" "0000000309" "0000000108" "0000000323" "0000000113" "0000000328" "0000000146" "0000000361" "0000000146" "0000000362" "0000000163" "0000000379" "0000000196" "0000000415" "0000000209" "0000000430" "0000000213" "0000000434" "0000000220" "0000000441" "0000000224" "0000000445" "0000000245" "0000000468" "0000000245" "0000000469" "0000000261" "0000000485" "0000000269" "0000000493"