### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC1A2) # 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}}" "SLC1A2" "solute carrier family 1 (glial high affinity glutamate transporter), member 2" "11" "p13-p12" "unknown" "NG_008727.1" "UD_134408563075" "" "https://www.LOVD.nl/SLC1A2" "" "1" "10940" "6506" "600300" "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/SLC1A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-12-02 14:05:21" "00000" "2026-01-20 18:57:21" ## 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}}" "00018986" "SLC1A2" "transcript variant 1" "003" "NM_004171.3" "" "NP_004162.2" "" "" "" "-592" "11414" "1725" "35441105" "35272752" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00285" "-" "epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy" "" "" "" "" "" "00081" "2013-11-28 15:59:54" "00006" "2019-02-14 14:51:22" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06113" "EIEE41" "Epileptic encephalopathy, early infantile, 41" "AD" "617105" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC1A2" "06113" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00089108" "" "" "" "1" "" "01837" "" "" "M" "no" "Germany" ">12y" "0" "" "" "white" "" "00089198" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "F" "" "" "" "0" "" "" "" "" "00089199" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "F" "" "" "" "0" "" "" "" "" "00467801" "" "" "" "1" "" "00006" "{PMID:Charng 2016:27435318}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam005PatBAB6682" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00089108" "00285" "00089198" "00344" "00089199" "00344" "00467801" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00285, 00344, 05611, 06113 ## Count = 4 "{{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}}" "0000068502" "00285" "00089108" "01837" "Familial, autosomal recessive" ">12y" "" "" "" "" "" "" "" "" "" "" "0000068588" "00344" "00089198" "00006" "Isolated (sporadic)" "" "early-onset epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "0000068589" "00344" "00089199" "00006" "Isolated (sporadic)" "" "early myoclonic encephalopathy" "" "" "" "" "" "" "" "" "" "0000352954" "05611" "00467801" "00006" "Familial, autosomal recessive" "" "developmental delay, microcephaly, cortical malformation, thin corpus callosum, ventricular septal defect, patent foramen ovale, anteriorly placed anus, skin macules" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000089253" "00089108" "1" "01837" "01837" "2016-11-29 12:34:47" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000089344" "00089198" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089345" "00089199" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469467" "00467801" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000089253" "S100A1" "0000089344" "SLC1A2" "0000089345" "SLC1A2" ## 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 = 26 "{{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}}" "0000147183" "0" "90" "11" "35302413" "35302413" "subst" "0" "01837" "SLC1A2_000001" "g.35302413C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35280866C>G" "" "pathogenic" "" "0000147281" "0" "90" "11" "35336636" "35336636" "subst" "0" "00006" "SLC1A2_000002" "g.35336636C>G" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "De novo" "-" "" "0" "" "" "g.35315089C>G" "" "pathogenic" "" "0000147282" "0" "90" "11" "35336626" "35336626" "subst" "0" "00006" "SLC1A2_000003" "g.35336626A>G" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "De novo" "-" "" "0" "" "" "g.35315079A>G" "" "pathogenic" "" "0000308258" "0" "30" "11" "35327628" "35327628" "subst" "4.8823E-5" "01943" "SLC1A2_000004" "g.35327628G>A" "" "" "" "SLC1A2(NM_004171.3):c.723C>T (p.N241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35306081G>A" "" "likely benign" "" "0000543856" "0" "50" "11" "35308425" "35308425" "subst" "1.21898E-5" "02327" "SLC1A2_000005" "g.35308425C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35286878C>T" "" "VUS" "" "0000543857" "0" "30" "11" "35327762" "35327762" "subst" "0" "01804" "SLC1A2_000006" "g.35327762C>T" "" "" "" "SLC1A2(NM_001195728.2):c.562G>A (p.(Val188Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35306215C>T" "" "likely benign" "" "0000543858" "0" "50" "11" "35336626" "35336626" "subst" "0" "02327" "SLC1A2_000007" "g.35336626A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35315079A>C" "" "VUS" "" "0000543859" "0" "30" "11" "35336644" "35336644" "subst" "0.00022762" "02326" "SLC1A2_000008" "g.35336644G>C" "" "" "" "SLC1A2(NM_004171.4):c.236C>G (p.A79G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35315097G>C" "" "likely benign" "" "0000543860" "0" "30" "11" "35344107" "35344107" "subst" "0.026202" "01804" "SLC1A2_000009" "g.35344107C>T" "" "" "" "SLC1A2(NM_001195728.2):c.-11+1G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35322560C>T" "" "likely benign" "" "0000656783" "0" "50" "11" "35313985" "35313985" "subst" "0" "02327" "SLC1A2_000010" "g.35313985C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35292438C>T" "" "VUS" "" "0000805099" "0" "50" "11" "35287311" "35287311" "subst" "0" "01943" "SLC1A2_000011" "g.35287311G>C" "" "" "" "SLC1A2(NM_004171.3):c.1422-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805100" "0" "30" "11" "35327602" "35327602" "subst" "0.000179808" "02326" "SLC1A2_000012" "g.35327602G>A" "" "" "" "SLC1A2(NM_004171.4):c.730+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805101" "0" "30" "11" "35327640" "35327640" "subst" "0.000581532" "01943" "SLC1A2_000013" "g.35327640C>T" "" "" "" "SLC1A2(NM_004171.3):c.711G>A (p.K237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852891" "0" "50" "11" "35313846" "35313846" "subst" "0" "02325" "SLC1A2_000014" "g.35313846C>G" "" "" "" "SLC1A2(NM_004171.4):c.1079G>C (p.G360A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889812" "0" "50" "11" "35333918" "35333918" "subst" "1.62677E-5" "02325" "SLC1A2_000015" "g.35333918T>C" "" "" "" "SLC1A2(NM_004171.4):c.388A>G (p.I130V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889813" "0" "50" "11" "35338990" "35338990" "subst" "1.62763E-5" "02325" "SLC1A2_000016" "g.35338990G>A" "" "" "" "SLC1A2(NM_004171.4):c.91C>T (p.R31W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913575" "0" "30" "11" "35327683" "35327683" "subst" "0.00024399" "02325" "SLC1A2_000017" "g.35327683G>T" "" "" "" "SLC1A2(NM_004171.4):c.668C>A (p.P223Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949650" "0" "50" "11" "35282505" "35282505" "subst" "0" "02325" "SLC1A2_000018" "g.35282505A>C" "" "" "" "SLC1A2(NM_004171.4):c.1661T>G (p.L554R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979555" "0" "30" "11" "35284932" "35284932" "subst" "0" "01804" "SLC1A2_000020" "g.35284932T>C" "" "" "" "SLC1A2(NM_004171.4):c.1653+2142A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999007" "0" "30" "11" "35276309" "35276309" "subst" "0" "01804" "SLC1A2_000021" "g.35276309G>A" "" "" "" "SLC1A2(NM_004171.3):c.*6132C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999008" "0" "30" "11" "35327744" "35327744" "subst" "0" "01804" "SLC1A2_000022" "g.35327744C>T" "" "" "" "SLC1A2(NM_004171.3):c.607G>A (p.(Glu203Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999009" "0" "30" "11" "35333788" "35333788" "subst" "1.22056E-5" "01804" "SLC1A2_000023" "g.35333788C>T" "" "" "" "SLC1A2(NM_004171.3):c.518G>A (p.(Arg173Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038431" "0" "50" "11" "35308311" "35308311" "subst" "0" "01804" "SLC1A2_000024" "g.35308311T>A" "" "" "" "SLC1A2(NM_004171.4):c.1279A>T (p.(Thr427Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038432" "0" "50" "11" "35313943" "35313943" "subst" "0" "01804" "SLC1A2_000025" "g.35313943C>T" "" "" "" "SLC1A2(NM_004171.4):c.982G>A (p.(Gly328Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049783" "3" "50" "11" "35287234" "35287234" "subst" "0" "00006" "SLC1A2_000026" "g.35287234T>C" "" "{PMID:Charng 2016:27435318}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.35265687T>C" "" "VUS" "" "0001065450" "0" "50" "11" "35440492" "35440492" "subst" "0" "02325" "SLC1A2_000027" "g.35440492C>T" "" "" "" "" "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 SLC1A2 ## Count = 26 "{{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}}" "0000147183" "00018986" "90" "1421" "1" "1421" "1" "c.1421+1G>C" "r.spl" "p.?" "9i" "0000147281" "00018986" "90" "244" "0" "244" "0" "c.244G>C" "r.(?)" "p.(Gly82Arg)" "3" "0000147282" "00018986" "90" "254" "0" "254" "0" "c.254T>C" "r.(?)" "p.(Leu85Pro)" "3" "0000308258" "00018986" "30" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Asn241=)" "" "0000543856" "00018986" "50" "1165" "0" "1165" "0" "c.1165G>A" "r.(?)" "p.(Val389Ile)" "" "0000543857" "00018986" "30" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Ile)" "" "0000543858" "00018986" "50" "254" "0" "254" "0" "c.254T>G" "r.(?)" "p.(Leu85Arg)" "" "0000543859" "00018986" "30" "236" "0" "236" "0" "c.236C>G" "r.(?)" "p.(Ala79Gly)" "" "0000543860" "00018986" "30" "18" "-5044" "18" "-5044" "c.18-5044G>A" "r.(=)" "p.(=)" "" "0000656783" "00018986" "50" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Gly314Arg)" "" "0000805099" "00018986" "50" "1422" "-6" "1422" "-6" "c.1422-6C>G" "r.(=)" "p.(=)" "" "0000805100" "00018986" "30" "730" "19" "730" "19" "c.730+19C>T" "r.(=)" "p.(=)" "" "0000805101" "00018986" "30" "711" "0" "711" "0" "c.711G>A" "r.(?)" "p.(Lys237=)" "" "0000852891" "00018986" "50" "1079" "0" "1079" "0" "c.1079G>C" "r.(?)" "p.(Gly360Ala)" "" "0000889812" "00018986" "50" "388" "0" "388" "0" "c.388A>G" "r.(?)" "p.(Ile130Val)" "" "0000889813" "00018986" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Trp)" "" "0000913575" "00018986" "30" "668" "0" "668" "0" "c.668C>A" "r.(?)" "p.(Pro223Gln)" "" "0000949650" "00018986" "50" "1661" "0" "1661" "0" "c.1661T>G" "r.(?)" "p.(Leu554Arg)" "" "0000979555" "00018986" "30" "1653" "2142" "1653" "2142" "c.1653+2142A>G" "r.(=)" "p.(=)" "" "0000999007" "00018986" "30" "7857" "0" "7857" "0" "c.*6132C>T" "r.(=)" "p.(=)" "" "0000999008" "00018986" "30" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Glu203Lys)" "" "0000999009" "00018986" "30" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173Gln)" "" "0001038431" "00018986" "50" "1279" "0" "1279" "0" "c.1279A>T" "r.(?)" "p.(Thr427Ser)" "" "0001038432" "00018986" "50" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Arg)" "" "0001049783" "00018986" "50" "1493" "0" "1493" "0" "c.1493A>G" "r.(?)" "p.(Lys498Arg)" "" "0001065450" "00018986" "50" "17" "5" "17" "5" "c.17+5G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000089253" "0000147183" "0000089344" "0000147281" "0000089345" "0000147282" "0000469467" "0001049783"