### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A26) # 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}}" "SLC25A26" "solute carrier family 25 member 26" "3" "p14.2" "unknown" "NC_000003.11" "UD_145627531575" "" "http://www.LOVD.nl/SLC25A26" "" "1" "20661" "115286" "611037" "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" "00006" "2016-05-26 15:24:09" "" "" "00000" "2025-11-01 13:22:20" ## 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}}" "00024192" "SLC25A26" "solute carrier family 25 (S-adenosylmethionine carrier), member 26, transcript variant 2" "004" "NM_001164796.1" "" "NP_001158268.1" "" "" "" "-460" "1681" "561" "66271168" "66429351" "00006" "2016-10-23 13:13:10" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "06557" "COXPD28" "Combined oxidative phosphorylation deficiency 28" "AR" "616794" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC25A26" "06557" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00065271" "" "" "" "1" "" "01606" "{PMID:Kishita Y 2016:26522469}, {DOI:Kishita Y 2016:10.1016/j.ajhg.2015.09.013}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Iraq" ">06y03m" "0" "" "" "" "26522469-Fam1PatII2" "00081808" "" "" "" "1" "" "00006" "{PMID:Kishita Y 2016:26522469}, {DOI:Kishita Y 2016:10.1016/j.ajhg.2015.09.013}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Japan" "" "0" "" "" "" "" "00081809" "" "" "" "1" "" "00006" "{PMID:Kishita Y 2016:26522469}, {DOI:Kishita Y 2016:10.1016/j.ajhg.2015.09.013}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00065271" "00198" "00081808" "00198" "00081809" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 06557 ## 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}}" "0000051377" "00198" "00065271" "01606" "Familial, autosomal recessive" ">00y01m" "pulmonary hypertension (HP:0002092), lactic acidosis (HP:0003128), slight interstitial oedema (HP:0000969), pulmonary hypertension (HP:0002092), enlarged right ventricle (HP:0001707), prominent lung artery (HP:0004414), reduced ATP production, slight global developmental delay (HP:0001263)" "00y01m" "" "01m" "" "" "" "" "" "" "Intra-mitochondrial Methylation Deficiency" "" "0000061453" "00198" "00081808" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000061454" "00198" "00081809" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065422" "00065271" "1" "01606" "01606" "2016-05-25 11:50:10" "00006" "2016-10-23 13:05:55" "SEQ" "DNA" "" "" "0000081938" "00081808" "1" "00006" "00006" "2016-10-23 13:17:45" "" "" "SEQ" "DNA" "" "" "0000081939" "00081809" "1" "00006" "00006" "2016-10-23 14:09:49" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000065422" "SLC25A26" "0000081938" "SLC25A26" "0000081939" "SLC25A26" ## 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 = 19 "{{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}}" "0000134710" "3" "90" "3" "66313793" "66313793" "subst" "0" "00006" "SLC25A26_000001" "g.66313793T>G" "" "{PMID:Kishita Y 2016:26522469}, {DOI:Kishita Y 2016:10.1016/j.ajhg.2015.09.013}" "" "NM_173471.3:c.443T>G (Val148Gly)" "" "Germline" "yes" "" "0" "" "" "g.66263369T>G" "" "pathogenic" "" "0000134711" "11" "90" "3" "66312479" "66312479" "subst" "0" "00006" "SLC25A26_000002" "g.66312479C>T" "" "{PMID:Kishita Y 2016:26522469}, {DOI:Kishita Y 2016:10.1016/j.ajhg.2015.09.013}" "" "NM_173471.3:c.305C>T (Ala102Val)" "" "Germline" "yes" "" "0" "" "" "g.66262055C>T" "" "pathogenic" "" "0000134712" "21" "90" "3" "66419929" "66419929" "subst" "0" "00006" "SLC25A26_000003" "g.66419929C>T" "" "{PMID:Kishita Y 2016:26522469}, {DOI:Kishita Y 2016:10.1016/j.ajhg.2015.09.013}" "" "NM_173471.3:569C>T (P199L)" "" "Germline" "yes" "" "0" "" "" "g.66369505C>T" "" "pathogenic" "" "0000134713" "3" "90" "3" "66271554" "66271554" "subst" "7.79654E-6" "00006" "SLC25A26_000004" "g.66271554G>A" "" "{PMID:Kishita Y 2016:26522469}, {DOI:Kishita Y 2016:10.1016/j.ajhg.2015.09.013}" "" "NM_173471.3:c.33+1G>A" "" "Germline" "yes" "" "0" "" "" "g.66221128G>A" "" "pathogenic" "" "0000291104" "0" "30" "3" "66457831" "66457831" "subst" "0" "01943" "LRIG1_000004" "g.66457831G>A" "" "" "" "LRIG1(NM_015541.2):c.1020C>T (p.H340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66407407G>A" "" "likely benign" "" "0000291105" "0" "50" "3" "66444506" "66444506" "subst" "8.13226E-6" "01943" "LRIG1_000001" "g.66444506C>A" "" "" "" "LRIG1(NM_015541.2):c.1426G>T (p.G476C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66394082C>A" "" "VUS" "" "0000520595" "0" "30" "3" "66431189" "66431189" "subst" "0.000219329" "01804" "SLC25A26_000008" "g.66431189C>A" "" "" "" "LRIG1(NM_015541.2):c.2867G>T (p.(Ser956Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66380765C>A" "" "likely benign" "" "0000520596" "0" "30" "3" "66432733" "66432733" "subst" "0.000544136" "01804" "SLC25A26_000009" "g.66432733C>G" "" "" "" "LRIG1(NM_015541.2):c.2581G>C (p.(Gly861Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66382309C>G" "" "likely benign" "" "0000520597" "0" "30" "3" "66432749" "66432749" "subst" "0.000134003" "01943" "SLC25A26_000010" "g.66432749G>A" "" "" "" "LRIG1(NM_015541.2):c.2565C>T (p.T855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66382325G>A" "" "likely benign" "" "0000520598" "0" "30" "3" "66460631" "66460631" "subst" "0.000886683" "01943" "SLC25A26_000011" "g.66460631T>C" "" "" "" "LRIG1(NM_015541.2):c.857A>G (p.H286R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66410207T>C" "" "likely benign" "" "0000520599" "0" "50" "3" "66463388" "66463388" "subst" "0.000268009" "01804" "SLC25A26_000012" "g.66463388C>T" "" "" "" "LRIG1(NM_015541.2):c.698G>A (p.(Gly233Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66412964C>T" "" "VUS" "" "0000689143" "0" "30" "3" "66293721" "66293721" "subst" "8.21288E-6" "01943" "SLC25A26_000013" "g.66293721C>G" "" "" "" "SLC25A26(NM_001350991.1):c.285C>G (p.I95M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801367" "0" "30" "3" "66434488" "66434488" "subst" "0.000162508" "01943" "SLC25A26_000014" "g.66434488G>A" "" "" "" "LRIG1(NM_015541.2):c.1998C>T (p.D666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801368" "0" "30" "3" "66434530" "66434530" "subst" "0.000101531" "01943" "SLC25A26_000015" "g.66434530C>T" "" "" "" "LRIG1(NM_015541.2):c.1956G>A (p.P652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993879" "0" "30" "3" "66550756" "66550756" "subst" "0.92017" "01804" "SLC25A26_000017" "g.66550756G>C" "" "" "" "LRIG1(NM_015541.2):c.76C>G (p.(Leu26Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034160" "0" "50" "3" "66428118" "66428118" "subst" "0" "01804" "SLC25A26_000018" "g.66428118T>C" "" "" "" "SLC25A26(NM_001379210.1):c.712T>C (p.(Phe238Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051393" "0" "50" "3" "66287103" "66287105" "del" "0" "01804" "SLC25A26_000019" "g.66287103_66287105del" "" "" "" "SLC25A26(NM_001379210.1):c.169_171del (p.(Ala57del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051394" "0" "50" "3" "66419908" "66419908" "subst" "5.19602E-5" "01804" "SLC25A26_000020" "g.66419908T>A" "" "" "" "SLC25A26(NM_001379210.1):c.575T>A (p.(Phe192Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051395" "0" "50" "3" "66428191" "66428191" "subst" "6.90367E-5" "01804" "SLC25A26_000021" "g.66428191C>T" "" "" "" "SLC25A26(NM_001379210.1):c.785C>T (p.(Thr262Met))" "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 SLC25A26 ## Count = 19 "{{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}}" "0000134710" "00024192" "90" "179" "0" "179" "0" "c.179T>G" "r.(?)" "p.(Val60Gly)" "" "0000134711" "00024192" "90" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Ala14Val)" "" "0000134712" "00024192" "90" "332" "0" "332" "0" "c.332C>T" "r.(?)" "p.(Pro111Leu)" "" "0000134713" "00024192" "90" "-75" "1" "-75" "1" "c.-75+1G>A" "r.spl" "p.?" "" "0000291104" "00024192" "30" "30161" "0" "30161" "0" "c.*29600G>A" "r.(=)" "p.(=)" "" "0000291105" "00024192" "50" "16836" "0" "16836" "0" "c.*16275C>A" "r.(=)" "p.(=)" "" "0000520595" "00024192" "30" "3519" "0" "3519" "0" "c.*2958C>A" "r.(=)" "p.(=)" "" "0000520596" "00024192" "30" "5063" "0" "5063" "0" "c.*4502C>G" "r.(=)" "p.(=)" "" "0000520597" "00024192" "30" "5079" "0" "5079" "0" "c.*4518G>A" "r.(=)" "p.(=)" "" "0000520598" "00024192" "30" "32961" "0" "32961" "0" "c.*32400T>C" "r.(=)" "p.(=)" "" "0000520599" "00024192" "50" "35718" "0" "35718" "0" "c.*35157C>T" "r.(=)" "p.(=)" "" "0000689143" "00024192" "30" "21" "0" "21" "0" "c.21C>G" "r.(?)" "p.(Ala7=)" "" "0000801367" "00024192" "30" "6818" "0" "6818" "0" "c.*6257G>A" "r.(=)" "p.(=)" "" "0000801368" "00024192" "30" "6860" "0" "6860" "0" "c.*6299C>T" "r.(=)" "p.(=)" "" "0000993879" "00024192" "30" "123086" "0" "123086" "0" "c.*122525G>C" "r.(=)" "p.(=)" "" "0001034160" "00024192" "50" "448" "0" "448" "0" "c.448T>C" "r.(?)" "p.(Phe150Leu)" "" "0001051393" "00024192" "50" "-74" "-6524" "-74" "-6522" "c.-74-6524_-74-6522del" "r.(=)" "p.(=)" "" "0001051394" "00024192" "50" "311" "0" "311" "0" "c.311T>A" "r.(?)" "p.(Phe104Tyr)" "" "0001051395" "00024192" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Thr174Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000065422" "0000134710" "0000081938" "0000134711" "0000081938" "0000134712" "0000081939" "0000134713"