### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A38) # 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}}" "SLC25A38" "solute carrier family 25, member 38" "3" "p22.1" "unknown" "NG_016931.1" "UD_132118901527" "" "https://www.LOVD.nl/SLC25A38" "" "1" "26054" "54977" "610819" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-12-30 09:36:27" "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}}" "00019220" "SLC25A38" "solute carrier family 25, member 38" "001" "NM_017875.2" "" "NP_060345.2" "" "" "" "-401" "1723" "915" "39424815" "39438819" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "01655" "SIDBA2" "anemia, sideroblastic, type 2, pyridoxine-refractory (SIDBA-2)" "AR" "205950" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05443" "SIDBA" "anemia, sideroblastic (SIDBA)" "" "" "" "" "" "00006" "2018-06-22 10:36:51" "" "" "05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC25A38" "01655" "SLC25A38" "05443" ## 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}}" "00210747" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA021" "00210962" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA236" "00293381" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00415282" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "F" "" "" "" "0" "" "" "" "37" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00210747" "05484" "00210962" "05484" "00293381" "00198" "00415282" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01655, 04214, 05443, 05484 ## Count = 3 "{{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}}" "0000159309" "05484" "00210747" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159524" "05484" "00210962" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000307080" "04214" "00415282" "00000" "Familial, autosomal recessive" "" "OMIM: 205950; sideroblastic anemia and splenomegaly" "" "" "" "" "" "" "" "" "Pyridoxinerefractory sideroblastic anemia 2" "" "" ## 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}}" "0000211825" "00210747" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212040" "00210962" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000294549" "00293381" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000416564" "00415282" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000211825" "SLC25A38" "0000212040" "SLC25A38" "0000416564" "SLC25A38" ## 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/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}}" "0000254815" "0" "30" "3" "39425226" "39425226" "subst" "0.00141087" "01943" "SLC25A38_000001" "g.39425226A>G" "" "" "" "SLC25A38(NM_017875.2):c.11A>G (p.(Asn4Ser)), SLC25A38(NM_017875.4):c.11A>G (p.N4S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39383735A>G" "" "likely benign" "" "0000298270" "0" "10" "3" "39431081" "39431081" "subst" "0.49312" "02325" "SLC25A38_000002" "g.39431081G>A" "" "" "" "SLC25A38(NM_017875.4):c.165G>A (p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39389590G>A" "" "benign" "" "0000308313" "0" "50" "3" "39433103" "39433103" "subst" "6.09236E-5" "01943" "SLC25A38_000003" "g.39433103C>T" "" "" "" "SLC25A38(NM_017875.4):c.448C>T (p.R150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39391612C>T" "" "VUS" "" "0000443455" "3" "90" "3" "39431108" "39431108" "subst" "0" "00006" "SLC25A38_000004" "g.39431108G>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.39389617G>T" "" "pathogenic (recessive)" "" "0000443681" "3" "90" "3" "39436065" "39436065" "subst" "0" "00006" "SLC25A38_000005" "g.39436065A>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.39394574A>T" "" "pathogenic (recessive)" "" "0000608710" "0" "50" "3" "39425226" "39425226" "subst" "0.00141087" "01804" "SLC25A38_000001" "g.39425226A>G" "" "" "" "SLC25A38(NM_017875.2):c.11A>G (p.(Asn4Ser)), SLC25A38(NM_017875.4):c.11A>G (p.N4S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39383735A>G" "" "VUS" "" "0000608711" "0" "30" "3" "39425227" "39425227" "subst" "0.000780621" "01804" "SLC25A38_000006" "g.39425227C>T" "" "" "" "SLC25A38(NM_017875.2):c.12C>T (p.(Asn4=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39383736C>T" "" "likely benign" "" "0000608712" "0" "30" "3" "39431961" "39431961" "subst" "0.0047672" "01804" "SLC25A38_000007" "g.39431961C>G" "" "" "" "SLC25A38(NM_017875.2):c.239C>G (p.(Thr80Arg)), SLC25A38(NM_017875.4):c.239C>G (p.T80R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39390470C>G" "" "likely benign" "" "0000651238" "1" "30" "3" "39433037" "39433037" "subst" "0.00549861" "03575" "SLC25A38_000008" "g.39433037A>G" "8/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs146940902}" "Germline" "" "rs146940902" "0" "" "" "g.39391546A>G" "" "likely benign" "" "0000676979" "0" "30" "3" "39433001" "39433001" "subst" "0" "01804" "SLC25A38_000009" "g.39433001T>G" "" "" "" "SLC25A38(NM_017875.2):c.346T>G (p.(Leu116Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859021" "0" "30" "3" "39433037" "39433037" "subst" "0.00549861" "02327" "SLC25A38_000008" "g.39433037A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874692" "3" "70" "3" "39431966" "39431967" "del" "0" "00000" "SLC25A38_000010" "g.39431966_39431967del" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "SLC25A38, NM_017875.2, c.244-245del, p.Leu83Phefs*69" "homozygous" "Unknown" "?" "" "0" "" "" "g.39390475_39390476del" "" "likely pathogenic" "ACMG" "0000928787" "0" "30" "3" "39433412" "39433412" "subst" "0.00132037" "02326" "SLC25A38_000011" "g.39433412G>C" "" "" "" "SLC25A38(NM_017875.4):c.525G>C (p.R175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948168" "0" "30" "3" "39431961" "39431961" "subst" "0.0047672" "02326" "SLC25A38_000007" "g.39431961C>G" "" "" "" "SLC25A38(NM_017875.2):c.239C>G (p.(Thr80Arg)), SLC25A38(NM_017875.4):c.239C>G (p.T80R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948169" "0" "30" "3" "39433412" "39433412" "subst" "0.00132037" "02327" "SLC25A38_000011" "g.39433412G>C" "" "" "" "SLC25A38(NM_017875.4):c.525G>C (p.R175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975812" "0" "50" "3" "39431077" "39431077" "subst" "0.000495496" "01804" "SLC25A38_000012" "g.39431077G>A" "" "" "" "SLC25A38(NM_017875.4):c.161G>A (p.(Arg54His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033954" "0" "10" "3" "39431081" "39431081" "subst" "0.49312" "02327" "SLC25A38_000002" "g.39431081G>A" "" "" "" "SLC25A38(NM_017875.4):c.165G>A (p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001033955" "0" "50" "3" "39431092" "39431092" "subst" "1.62458E-5" "01804" "SLC25A38_000013" "g.39431092A>G" "" "" "" "SLC25A38(NM_017875.4):c.176A>G (p.(Gln59Arg))" "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 SLC25A38 ## Count = 18 "{{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}}" "0000254815" "00019220" "30" "11" "0" "11" "0" "c.11A>G" "r.(?)" "p.(Asn4Ser)" "" "0000298270" "00019220" "10" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Leu55=)" "" "0000308313" "00019220" "50" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" "" "0000443455" "00019220" "90" "191" "1" "191" "1" "c.191+1G>T" "r.spl" "p.?" "" "0000443681" "00019220" "90" "790" "0" "790" "0" "c.790A>T" "r.(?)" "p.(Lys264*)" "" "0000608710" "00019220" "50" "11" "0" "11" "0" "c.11A>G" "r.(?)" "p.(Asn4Ser)" "" "0000608711" "00019220" "30" "12" "0" "12" "0" "c.12C>T" "r.(?)" "p.(Asn4=)" "" "0000608712" "00019220" "30" "239" "0" "239" "0" "c.239C>G" "r.(?)" "p.(Thr80Arg)" "" "0000651238" "00019220" "30" "382" "0" "382" "0" "c.382A>G" "r.(?)" "p.(Met128Val)" "" "0000676979" "00019220" "30" "346" "0" "346" "0" "c.346T>G" "r.(?)" "p.(Leu116Val)" "" "0000859021" "00019220" "30" "382" "0" "382" "0" "c.382A>G" "r.(?)" "p.(Met128Val)" "" "0000874692" "00019220" "70" "244" "0" "245" "0" "c.244_245del" "r.(?)" "p.(Leu83Phefs*869)" "" "0000928787" "00019220" "30" "525" "0" "525" "0" "c.525G>C" "r.(?)" "p.(=)" "" "0000948168" "00019220" "30" "239" "0" "239" "0" "c.239C>G" "r.(?)" "p.(Thr80Arg)" "" "0000948169" "00019220" "30" "525" "0" "525" "0" "c.525G>C" "r.(?)" "p.(=)" "" "0000975812" "00019220" "50" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Arg54His)" "" "0001033954" "00019220" "10" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Leu55=)" "" "0001033955" "00019220" "50" "176" "0" "176" "0" "c.176A>G" "r.(?)" "p.(Gln59Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000211825" "0000443455" "0000212040" "0000443681" "0000294549" "0000651238" "0000416564" "0000874692"