### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC6A17) # 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}}" "SLC6A17" "solute carrier family 6, member 17" "1" "p13.2" "unknown" "NC_000001.10" "UD_132456030871" "" "https://www.LOVD.nl/SLC6A17" "" "1" "31399" "388662" "610299" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SLC6A17_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-06-10 15:01:46" "00006" "2025-06-10 16:30:42" ## 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}}" "00019050" "SLC6A17" "solute carrier family 6, member 17" "001" "NM_001010898.2" "" "NP_001010898.1" "" "" "" "-461" "5942" "2184" "110693132" "110744824" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "04666" "MRT48" "mental retardation, autosomal recessive, type 48 (MRT-48)" "AR" "616269" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC6A17" "00139" "SLC6A17" "04666" ## 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}}" "00387757" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Kurd" "M328" "00465863" "" "" "" "1" "" "04855" "" "" "M" "yes" "Pakistan" "" "" "" "" "Asian" "304" "00465864" "" "" "" "3" "" "00006" "{PMID:Iqbal 2015:25704603}" "2-generation family, 3 affected, unaffected parents" "F" "" "Netherlands" "" "0" "" "" "" "FamW10-3099" "00465865" "" "" "" "2" "" "00006" "{PMID:Iqbal 2015:25704603}" "4-generation family, 1 affected sister/brother, unaffected parents/relatives" "F;M" "yes" "Iran" "" "0" "" "" "" "FamM328" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00387757" "00139" "00465863" "04666" "00465864" "00139" "00465865" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04666 ## 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}}" "0000281325" "00139" "00387757" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "intellectual disability" "0000351312" "04666" "00465863" "04855" "Familial, autosomal recessive" "01y" "intellectual disbaility, short stature, developmental delay" "00y" "01y" "0y" "" "" "" "" "intellectual disbaility" "MRT48" "0000351313" "00139" "00465864" "00006" "Familial, autosomal recessive" "" "dsee paper; ..., moderate-severe intellectual disability; neonatal period cried excessively; psychomotor development delayed; progressive tremor; small hand length" "" "" "" "" "" "" "" "MRT48" "intellectual disability" "0000351314" "00139" "00465865" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe intellectual disability; progressive tremor; aggressive, poor impulse control; normal hand length" "" "" "" "" "" "" "" "MRT48" "intellectual disability" ## 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}}" "0000388988" "00387757" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467514" "00465863" "1" "04855" "04855" "2025-06-09 09:14:12" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000467515" "00465864" "1" "00006" "00006" "2025-06-10 16:23:04" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467516" "00465865" "1" "00006" "00006" "2025-06-10 16:28:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000388988" "SLC6A17" "0000467514" "SLC6A17" ## 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 = 15 "{{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}}" "0000339274" "0" "10" "1" "110709719" "110709719" "subst" "0.451798" "02327" "SLC6A17_000001" "g.110709719T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110167097T>C" "" "benign" "" "0000339275" "0" "10" "1" "110738296" "110738296" "subst" "0.417825" "02327" "SLC6A17_000003" "g.110738296G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110195674G>A" "" "benign" "" "0000341503" "0" "10" "1" "110709720" "110709720" "subst" "0.374393" "02327" "SLC6A17_000002" "g.110709720G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110167098G>A" "" "benign" "" "0000350838" "0" "10" "1" "110740688" "110740688" "subst" "0.427649" "02327" "SLC6A17_000004" "g.110740688C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110198066C>T" "" "benign" "" "0000716669" "0" "50" "1" "110709771" "110709771" "subst" "2.4374E-5" "02327" "SLC6A17_000007" "g.110709771A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716670" "0" "70" "1" "110717446" "110717446" "subst" "4.06121E-6" "02327" "SLC6A17_000008" "g.110717446G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000716671" "0" "50" "1" "110738255" "110738255" "subst" "0" "02327" "SLC6A17_000009" "g.110738255C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716672" "0" "50" "1" "110740126" "110740127" "del" "0" "02329" "SLC6A17_000006" "g.110740126_110740127del" "" "" "" "SLC6A17(NM_001010898.3):c.1720_1721delTT (p.F574Rfs*72)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817781" "3" "70" "1" "110740780" "110740780" "subst" "0" "00006" "SLC6A17_000010" "g.110740780C>G" "" "{PMID:Hu 2019:29302074}" "" "" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.110198158C>G" "" "likely pathogenic (recessive)" "" "0001031044" "0" "50" "1" "110714768" "110714768" "subst" "3.67915E-5" "01804" "SLC6A17_000011" "g.110714768C>T" "" "" "" "SLC6A17(NM_001010898.4):c.373C>T (p.(Arg125Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031045" "0" "50" "1" "110740187" "110740187" "subst" "4.12694E-5" "01804" "SLC6A17_000012" "g.110740187C>T" "" "" "" "SLC6A17(NM_001010898.4):c.1781C>T (p.(Thr594Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031046" "0" "30" "1" "110740693" "110740693" "subst" "5.85387E-5" "01804" "SLC6A17_000013" "g.110740693C>T" "" "" "" "SLC6A17(NM_001010898.4):c.1816-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045329" "3" "70" "1" "110740099" "110740099" "subst" "4.08017E-6" "04855" "SLC6A17_000014" "g.110740099T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.110197477T>C" "" "VUS" "ACMG" "0001045333" "3" "70" "1" "110716634" "110716634" "subst" "4.06124E-6" "00006" "SLC6A17_000015" "g.110716634G>A" "" "{PMID:Iqbal 2015:25704603}" "" "" "" "Germline" "yes" "" "0" "" "" "g.110174012G>A" "" "likely pathogenic (recessive)" "" "0001045334" "3" "90" "1" "110740780" "110740780" "subst" "0" "00006" "SLC6A17_000010" "g.110740780C>G" "" "{PMID:Iqbal 2015:25704603}" "" "" "" "Germline" "yes" "" "0" "" "" "g.110198158C>G" "" "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 SLC6A17 ## Count = 15 "{{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}}" "0000339274" "00019050" "10" "168" "0" "168" "0" "c.168T>C" "r.(?)" "p.(Asp56=)" "" "0000339275" "00019050" "10" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Ser527=)" "" "0000341503" "00019050" "10" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Ala57Thr)" "" "0000350838" "00019050" "10" "1816" "-10" "1816" "-10" "c.1816-10C>T" "r.(=)" "p.(=)" "" "0000716669" "00019050" "50" "220" "0" "220" "0" "c.220A>G" "r.(?)" "p.(Ile74Val)" "" "0000716670" "00019050" "70" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Trp206*)" "" "0000716671" "00019050" "50" "1540" "0" "1540" "0" "c.1540C>G" "r.(?)" "p.(Arg514Gly)" "" "0000716672" "00019050" "50" "1720" "0" "1721" "0" "c.1720_1721del" "r.(?)" "p.(Phe574ArgfsTer72)" "" "0000817781" "00019050" "70" "1898" "0" "1898" "0" "c.1898C>G" "r.(?)" "p.(Pro633Arg)" "" "0001031044" "00019050" "50" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Arg125Cys)" "" "0001031045" "00019050" "50" "1781" "0" "1781" "0" "c.1781C>T" "r.(?)" "p.(Thr594Met)" "" "0001031046" "00019050" "30" "1816" "-5" "1816" "-5" "c.1816-5C>T" "r.spl?" "p.?" "" "0001045329" "00019050" "70" "1693" "0" "1693" "0" "c.1693T>C" "r.(?)" "p.(Tyr565His)" "" "0001045333" "00019050" "70" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Arg)" "" "0001045334" "00019050" "90" "1898" "0" "1898" "0" "c.1898C>G" "r.(?)" "p.(Pro633Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000388988" "0000817781" "0000467514" "0001045329" "0000467515" "0001045333" "0000467516" "0001045334"