### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GLDC) # 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}}" "GLDC" "glycine decarboxylase" "9" "p24.1" "unknown" "LRG_643" "UD_144420867694" "" "" "" "1" "4313" "2731" "238300" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-02-01 11:01:10" "" "" "00005" "2021-09-05 15:41:27" ## 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}}" "00000113" "GLDC" "glycine decarboxylase" "001" "NM_000170.2" "" "NP_000161.2" "" "" "" "-193" "3616" "3063" "6645692" "6532464" "00001" "2021-02-01 11:01:10" "" "" ## 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}}" "00062" "GCE" "Glycine encephalopathy/nonketotic hyperglycinemia" "" "" "" "" "" "00001" "2021-02-01 10:14:56" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GLDC" "00062" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000394" "" "" "" "1" "" "00002" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "Malaysia" "Malay" "" "M" "00000395" "" "" "" "1" "" "00002" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "Malaysia" "Malay" "" "F" "00000396" "" "" "" "1" "" "00002" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "Malaysia" "Penan" "" "M" "00000397" "" "" "" "1" "" "00002" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "Malaysia" "Chinese" "" "M" "00000398" "" "" "" "1" "" "00002" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "Malaysia" "Penan" "" "F" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000394" "00062" "00000395" "00062" "00000396" "00062" "00000397" "00062" "00000398" "00062" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00062 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000141" "00062" "00000394" "00002" "" "Familial, autosomal recessive" "0000000142" "00062" "00000395" "00002" "" "Familial, autosomal recessive" "0000000143" "00062" "00000396" "00002" "" "Familial, autosomal recessive" "0000000144" "00062" "00000397" "00002" "" "Familial, autosomal recessive" "0000000145" "00062" "00000398" "00002" "" "Familial, autosomal recessive" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000408" "00000394" "1" "00002" "00002" "2021-02-01 11:06:18" "" "" "MLPA;PCR;SEQ" "DNA" "0000000409" "00000395" "1" "00002" "00002" "2021-02-01 11:26:43" "" "" "MLPA;PCR;SEQ" "DNA" "0000000410" "00000396" "1" "00002" "00002" "2021-02-01 12:19:29" "" "" "MLPA;PCR;SEQ" "DNA" "0000000411" "00000397" "1" "00002" "00002" "2021-02-01 12:47:47" "" "" "MLPA;PCR;SEQ" "DNA" "0000000412" "00000398" "1" "00002" "00002" "2021-02-02 09:42:01" "" "" "MLPA;PCR;SEQ" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000000408" "GLDC" "0000000409" "GLDC" "0000000410" "GLDC" "0000000411" "GLDC" "0000000412" "GLDC" ## 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 = 12 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001842" "0" "90" "9" "6588434" "6588434" "subst" "0" "00002" "GLDC_000001" "g.6588434G>T" "1/3" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "rs905672088" "0000001843" "0" "90" "9" "6602150" "6602150" "subst" "0" "00002" "GLDC_000002" "g.6602150T>A" "1/3" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "rs62517163" "0000001844" "0" "90" "9" "6606632" "6606632" "subst" "0" "00002" "GLDC_000003" "g.6606632A>G" "1/3" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "rs397508780" "0000001845" "0" "90" "9" "6610222" "6610222" "subst" "0" "00002" "GLDC_000004" "g.6610222G>A" "1/3" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}, {dbSNP:rs386833583}, {ClinVar:56101}" "" "" "rs386833583" "0000001846" "0" "90" "9" "6554704" "6554704" "subst" "0" "00002" "GLDC_000005" "g.6554704G>C" "1/3" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "" "0000001847" "0" "90" "9" "6589250" "6589250" "subst" "0.000304569" "00002" "GLDC_000006" "g.6589250G>C" "1/3" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}, {dbSNP:rs557412758}, {ClinVar:462855}" "" "" "rs557412758" "0000001848" "0" "90" "9" "6587202" "6587202" "subst" "0" "00002" "GLDC_000007" "g.6587202C>T" "1/3" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "" "0000001849" "3" "90" "9" "6602150" "6602150" "subst" "0" "00002" "GLDC_000002" "g.6602150T>A" "1/3" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "" "0000001850" "0" "90" "9" "6558659" "6558659" "subst" "0" "00002" "GLDC_000008" "g.6558659T>C" "1/2" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}, {dbSNP:rs386833536}, {ClinVar:56055}" "" "" "rs386833536" "0000001851" "0" "10" "9" "6604763" "6604763" "subst" "0" "00002" "GLDC_000009" "g.6604763C>A" "1" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368} , {dbSNP:rs75123867}" "" "" "rs75123867" "0000001852" "0" "90" "9" "6588676" "6588676" "subst" "1.21998E-5" "00002" "GLDC_000010" "g.6588676C>T" "1" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}" "" "" "rs369977771" "0000001853" "0" "90" "9" "6558659" "6558659" "subst" "0" "00002" "GLDC_000008" "g.6558659T>C" "1" "{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}, {dbSNP:rs386833536}, {ClinVar:56055}" "" "" "rs386833536" ## 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 GLDC ## Count = 12 "{{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/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001842" "00000113" "90" "1674" "0" "1674" "0" "c.1674C>A" "14" "p.(Cys558*)" "r.(?)" "" "" "" "0000001843" "00000113" "90" "1114" "0" "1114" "0" "c.1114A>T" "8" "p.(Ile372Phe)" "r.(?)" "" "" "" "0000001844" "00000113" "90" "673" "0" "673" "0" "c.673T>C" "5" "p.(Cys225Arg)" "r.(?)" "" "" "" "0000001845" "00000113" "90" "605" "0" "605" "0" "c.605C>T" "4" "p.(Ala202Val)" "r.(?)" "" "" "{ClinVar:56101}" "0000001846" "00000113" "90" "2280" "0" "2280" "0" "c.2280C>G" "19" "p.(His760Gln)" "r.(?)" "" "" "" "0000001847" "00000113" "90" "1525" "0" "1525" "0" "c.1525C>G" "12" "p.(Pro509Ala)" "r.(?)" "" "" "{ClinVar:462855}" "0000001848" "00000113" "90" "1789" "0" "1789" "0" "c.1789G>A" "15" "p.(Glu597Lys)" "r.(?)" "" "" "" "0000001849" "00000113" "90" "1114" "0" "1114" "0" "c.1114A>T" "8" "p.(Ile372Phe)" "r.(?)" "" "" "" "0000001850" "00000113" "90" "1952" "0" "1952" "0" "c.1952A>G" "17" "p.(His651Arg)" "r.(?)" "" "" "{ClinVar:56055}" "0000001851" "00000113" "10" "883" "0" "883" "0" "c.883G>T" "7" "p.(Asp295Tyr)" "r.(?)" "" "" "" "0000001852" "00000113" "90" "1607" "0" "1607" "0" "c.1607G>A" "13" "p.(Arg536Gln)" "r.(?)" "" "" "" "0000001853" "00000113" "90" "1952" "0" "1952" "0" "c.1952A>G" "17" "p.(His651Arg)" "r.(?)" "" "" "{ClinVar:56055}" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000408" "0000001842" "0000000408" "0000001843" "0000000408" "0000001844" "0000000409" "0000001845" "0000000409" "0000001846" "0000000409" "0000001847" "0000000409" "0000001848" "0000000409" "0000001849" "0000000410" "0000001850" "0000000411" "0000001851" "0000000411" "0000001852" "0000000412" "0000001853"