### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A15) # 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}}" "SLC25A15" "solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15" "13" "q14" "unknown" "NG_012248.1" "UD_132118567947" "" "https://www.LOVD.nl/SLC25A15" "" "1" "10985" "10166" "603861" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SLC25A15_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-20 00:00:00" "00006" "2017-08-04 21:44:44" "00000" "2024-08-28 13:16:32" ## 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}}" "00019197" "SLC25A15" "solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15" "001" "NM_014252.3" "" "NP_055067.1" "" "" "" "-322" "3699" "906" "41363547" "41386596" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00980" "-" "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH)" "AR" "238970" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC25A15" "00139" "SLC25A15" "00980" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00112540" "" "" "" "1" "" "00006" "{PMID:Camacho 1999:10369256}" "" "" "" "Canada" "" "0" "" "" "French" "10369256-PatHHH01" "00112541" "" "" "" "1" "" "00006" "{PMID:Camacho 1999:10369256}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Japanese;Irish" "10369256-PatHHH011" "00112542" "" "" "" "1" "" "02171" "" "" "M" "" "Turkey" "" "0" "" "" "Turkish" "" "00112543" "" "" "" "1" "" "00006" "" "" "F" "" "Italy" "" "0" "" "" "" "" "00112544" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00112545" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00112546" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00112547" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00112548" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00112549" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00112550" "" "" "" "1" "" "00006" "{PMID:Nakajima 1988:3407856}" "" "" "" "Japan" "" "0" "" "" "" "" "00112551" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00112552" "" "" "" "1" "" "00006" "" "" "-" "" "" "" "0" "" "" "" "" "00112553" "" "" "" "9" "" "00006" "{PMID:Camacho 1999:10369256}" "9 unrelated probands" "" "" "Canada" "" "0" "" "" "French" "10369256-PatA" "00112554" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00112555" "" "" "" "1" "" "00006" "" "" "-" "-" "" "" "0" "" "" "" "" "00112556" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00112557" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00112558" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00112559" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00112560" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00112561" "" "" "" "2" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00290934" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327004" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00451367" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Co-occurrence of two different monogenic diseases" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-021" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00112540" "00980" "00112541" "00980" "00112542" "00980" "00112543" "00980" "00112544" "00980" "00112545" "00198" "00112546" "00980" "00112547" "00198" "00112548" "00198" "00112549" "00980" "00112550" "00980" "00112551" "00980" "00112553" "00980" "00112554" "00980" "00112556" "00198" "00112557" "00198" "00112558" "00980" "00112559" "00980" "00112560" "00980" "00112561" "00198" "00290934" "00198" "00327004" "00198" "00451367" "00980" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00980 ## Count = 22 "{{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}}" "0000088104" "00980" "00112540" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088105" "00980" "00112541" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088106" "00980" "00112542" "02171" "Familial, autosomal recessive" "" "3.5y first speech problems; 6y hospitalized for first attack with severe tantrum, confusion, gait disturbances, loss of speech abilities, physical examination showed upward paralysis, aphasia, bilateral flask paralysis upper/lower extremities and deep tendon reflexes. Cranial CT, MRI, EMG and fundoscopic findings were normal; intolerance for protein-rich foods, presented hyperornithinemia, hyperammonemia, homocitrullinuria" "" "" "" "" "" "" "" "" "" "" "" "0000088107" "00980" "00112543" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088108" "00980" "00112544" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088109" "00198" "00112545" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088110" "00980" "00112546" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088111" "00198" "00112547" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088112" "00198" "00112548" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088113" "00980" "00112549" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088114" "00980" "00112550" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088115" "00980" "00112551" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088117" "00980" "00112553" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088118" "00980" "00112554" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088120" "00198" "00112556" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088121" "00198" "00112557" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088122" "00980" "00112558" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088123" "00980" "00112559" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088124" "00980" "00112560" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088125" "00198" "00112561" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000245483" "00198" "00327004" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Seizure (HP:0001250); Global developmental delay (HP:0001263); Talipes equinovarus (HP:0001762); Hyperornithinemia (HP:0012026)" "" "" "" "" "" "" "" "" "" "" "" "0000340122" "00980" "00451367" "04221" "Familial, autosomal recessive" "" "Seizures, hyperammonemia, intellectual disability, abnormality of coagulation" "" "00y00m01d" "" "" "" "" "" "" "Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome" "Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000112998" "00112540" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000112999" "00112541" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2017-08-04 22:04:26" "FISH;PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000113000" "00112542" "1" "02171" "02171" "2013-11-20 00:13:51" "00006" "2014-01-21 08:53:18" "PCR;SEQ" "DNA" "" "" "0000113001" "00112543" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "SEQ" "DNA" "" "" "0000113002" "00112544" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "SEQ" "DNA" "" "" "0000113003" "00112545" "1" "00006" "00006" "2009-03-22 12:02:54" "" "" "MCA;SEQ" "DNA" "" "" "0000113004" "00112546" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "SEQ" "DNA" "" "" "0000113005" "00112547" "1" "00006" "00006" "2009-03-22 12:02:54" "" "" "MCA;SEQ" "DNA" "" "" "0000113006" "00112548" "1" "00006" "00006" "2009-03-22 12:02:54" "" "" "MCA;SEQ" "DNA" "" "" "0000113007" "00112549" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "SEQ" "DNA" "" "" "0000113008" "00112550" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "SEQ" "DNA" "" "" "0000113009" "00112551" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "SEQ" "DNA" "" "" "0000113010" "00112552" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 17:33:47" "SEQ" "DNA" "" "" "0000113011" "00112553" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "SEQ" "DNA" "" "" "0000113012" "00112554" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "SEQ" "DNA" "" "" "0000113013" "00112555" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 17:33:47" "SEQ" "DNA" "" "" "0000113014" "00112556" "1" "00006" "00006" "2009-03-22 12:02:54" "" "" "MCA;SEQ" "DNA" "" "" "0000113015" "00112557" "1" "00006" "00006" "2009-03-22 12:02:54" "" "" "MCA;SEQ" "DNA" "" "" "0000113016" "00112558" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "SEQ" "DNA" "" "" "0000113017" "00112559" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "SEQ" "DNA" "" "" "0000113018" "00112560" "1" "00006" "00006" "2009-03-22 12:02:54" "00006" "2011-01-24 22:59:37" "SEQ" "DNA" "" "" "0000113019" "00112561" "1" "00006" "00006" "2009-03-22 12:02:54" "" "" "MCA;SEQ" "DNA" "" "" "0000292102" "00290934" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328219" "00327004" "1" "01807" "01807" "2021-01-18 14:13:01" "" "" "SEQ" "DNA" "" "" "0000452966" "00451367" "1" "04221" "04221" "2024-05-31 21:14:43" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000112998" "SLC25A15" "0000112999" "SLC25A15" "0000113000" "SLC25A15" "0000113001" "SLC25A15" "0000113002" "SLC25A15" "0000113003" "SLC25A15" "0000113004" "SLC25A15" "0000113005" "SLC25A15" "0000113006" "SLC25A15" "0000113007" "SLC25A15" "0000113008" "SLC25A15" "0000113009" "SLC25A15" "0000113010" "SLC25A15" "0000113011" "SLC25A15" "0000113012" "SLC25A15" "0000113013" "SLC25A15" "0000113014" "SLC25A15" "0000113015" "SLC25A15" "0000113016" "SLC25A15" "0000113017" "SLC25A15" "0000113018" "SLC25A15" "0000113019" "SLC25A15" "0000452966" "SLC25A15" ## 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 = 56 "{{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}}" "0000181716" "1" "10" "13" "41373254" "41373254" "subst" "0.0767538" "00006" "SLC25A15_000001" "g.41373254G>A" "5/94" "{PMID:Mitchell 2009:18666241}" "" "Thr39Thr" "" "Germline" "" "" "0" "" "" "g.40799118G>A" "" "benign" "" "0000181717" "1" "10" "13" "41373473" "41373473" "subst" "0" "00006" "SLC25A15_000002" "g.41373473T>A" "2/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.40799337T>A" "" "benign" "" "0000181718" "1" "10" "13" "41379272" "41379272" "subst" "0.090428" "00006" "SLC25A15_000003" "g.41379272C>T" "5/94" "{PMID:Mitchell 2009:18666241}" "" "Ala111Ala" "" "Germline" "" "rs9577152" "0" "" "" "g.40805136C>T" "" "benign" "" "0000181719" "1" "10" "13" "41381541" "41381541" "subst" "0.000860865" "00006" "SLC25A15_000004" "g.41381541C>T" "1/94" "{PMID:Mitchell 2009:18666241}" "" "Phe187Phe" "" "Germline" "" "" "0" "" "" "g.40807405C>T" "" "benign" "" "0000181720" "1" "10" "13" "41382711" "41382711" "subst" "0.3764" "00006" "SLC25A15_000005" "g.41382711A>T" "37/94" "{PMID:Mitchell 2009:18666241}" "" "Ile254Leu" "" "Germline" "" "rs17849654" "0" "" "" "g.40808575A>T" "" "benign" "" "0000181721" "1" "10" "13" "41383851" "41383851" "subst" "0.0366237" "00006" "SLC25A15_000006" "g.41383851T>A" "2/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.40809715T>A" "" "benign" "" "0000181722" "1" "90" "13" "41367362" "41383804" "" "0" "00006" "SLC25A15_000019" "g.(?_41367362)_(41383804_?)del" "" "{PMID:Camacho 1999:10369256}, {OMIM603861:0001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000181723" "21" "90" "13" "" "" "" "" "00006" "SLC25A15_000018" "g.(?_41367362)_(41383804del_?)del" "" "{PMID:Camacho 1999:10369256}, {OMIM603861:0002}" "" "" "microdeletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000181724" "3" "90" "13" "41367406" "41367406" "subst" "4.07368E-6" "02171" "SLC25A15_000017" "g.41367406C>T" "" "" "" "280C>T" "not in 100 controls" "Germline" "" "" "0" "" "" "g.40793270C>T" "" "pathogenic" "" "0000181725" "1" "90" "13" "41373216" "41373216" "subst" "2.03031E-5" "00006" "SLC25A15_000010" "g.41373216G>A" "" "{PMID:Salvi 2001:11552031}, {OMIM603861:0004}" "HpaII-" "" "" "Germline" "" "" "0" "" "" "g.40799080G>A" "" "pathogenic" "" "0000181726" "2" "90" "13" "41373216" "41373216" "subst" "2.03031E-5" "00006" "SLC25A15_000010" "g.41373216G>A" "" "{PMID:Salvi 2001:11552031}, {OMIM603861:0004}" "HpaII-" "" "" "Germline" "" "" "0" "" "" "g.40799080G>A" "" "pathogenic" "" "0000181727" "1" "90" "13" "41373216" "41373216" "subst" "2.03031E-5" "00006" "SLC25A15_000010" "g.41373216G>A" "" "{PMID:Salvi 2001:11552031}, {OMIM603861:0004}" "HpaII-" "" "" "Germline" "" "" "0" "" "" "g.40799080G>A" "" "pathogenic" "" "0000181728" "2" "90" "13" "41373301" "41373301" "dup" "0" "00006" "SLC25A15_000015" "g.41373301dup" "" "{PMID:Salvi 2001:11552031}" "TrulI+" "164insA" "" "Germline" "" "" "0" "" "" "g.40799165dup" "" "pathogenic" "" "0000181729" "1" "90" "13" "41373402" "41373402" "subst" "0" "00006" "SLC25A15_000014" "g.41373402C>T" "" "{PMID:Salvi 2001:11552031}" "BfaI+" "" "" "Germline" "" "" "0" "" "" "g.40799266C>T" "" "pathogenic" "" "0000181730" "2" "90" "13" "41373402" "41373402" "subst" "0" "00006" "SLC25A15_000014" "g.41373402C>T" "" "{PMID:Salvi 2001:11552031}" "BfaI+" "" "" "Germline" "" "" "0" "" "" "g.40799266C>T" "" "pathogenic" "" "0000181731" "1" "90" "13" "41381512" "41381512" "subst" "6.49709E-5" "00006" "SLC25A15_000009" "g.41381512C>T" "" "{PMID:Miyamoto 2001:11355015}, {OMIM603861:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.40807376C>T" "" "pathogenic" "" "0000181732" "2" "90" "13" "41381512" "41381512" "subst" "6.49709E-5" "00006" "SLC25A15_000009" "g.41381512C>T" "" "{PMID:Miyamoto 2001:11355015}, {OMIM603861:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.40807376C>T" "" "pathogenic" "" "0000181733" "1" "90" "13" "41381512" "41381512" "subst" "6.49709E-5" "00006" "SLC25A15_000009" "g.41381512C>T" "" "{PMID:Miyamoto 2001:11355015}, {OMIM603861:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.40807376C>T" "" "pathogenic" "" "0000181734" "2" "90" "13" "41381512" "41381512" "subst" "6.49709E-5" "00006" "SLC25A15_000009" "g.41381512C>T" "" "{PMID:Miyamoto 2001:11355015}, {OMIM603861:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.40807376C>T" "" "pathogenic" "" "0000181735" "1" "90" "13" "41381512" "41381512" "subst" "6.49709E-5" "00006" "SLC25A15_000009" "g.41381512C>T" "" "{PMID:Salvi 2001:11552031}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.40807376C>T" "" "pathogenic" "" "0000181736" "2" "90" "13" "41381512" "41381512" "subst" "6.49709E-5" "00006" "SLC25A15_000009" "g.41381512C>T" "" "{PMID:Salvi 2001:11552031}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.40807376C>T" "" "pathogenic" "" "0000181737" "11" "90" "13" "41381515" "41381515" "subst" "8.1213E-6" "00006" "SLC25A15_000008" "g.41381515G>A" "" "{PMID:Camacho 1999:10369256}, {OMIM603861:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.40807379G>A" "" "pathogenic" "" "0000181738" "0" "90" "13" "41381515" "41381515" "subst" "8.1213E-6" "00006" "SLC25A15_000008" "g.41381515G>A" "" "{PMID:Camacho 1999:10369256}, {OMIM603861:0002}" "" "" "expression cloning shows impaired stability and/or targeting (protein does not target mitochondria)" "In vitro (cloned)" "-" "" "0" "" "" "g.40807379G>A" "" "NA" "" "0000181739" "3" "90" "13" "41381539" "41381541" "del" "0" "00006" "SLC25A15_000007" "g.41381539_41381541del" "" "{PMID:Camacho 1999:10369256}, {OMIM603861:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.40807403_40807405del" "" "pathogenic" "" "0000181741" "2" "90" "13" "41381539" "41381541" "del" "0" "00006" "SLC25A15_000007" "g.41381539_41381541del" "" "{PMID:Camacho 1999:10369256}, {OMIM603861:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.40807403_40807405del" "" "pathogenic" "" "0000181742" "1" "90" "13" "41381539" "41381541" "del" "0" "00006" "SLC25A15_000007" "g.41381539_41381541del" "" "{PMID:Salvi 2001:11552031}, {OMIM603861:0004}" "-" "" "" "Germline" "" "" "0" "" "" "g.40807403_40807405del" "" "pathogenic" "" "0000181743" "0" "90" "13" "41381539" "41381541" "del" "0" "00006" "SLC25A15_000007" "g.41381539_41381541del" "" "{PMID:Camacho 1999:10369256}, {OMIM603861:0001}" "" "" "expression cloning shows impaired stability and/or targeting (protein does not target mitochondria)" "In vitro (cloned)" "" "" "0" "" "" "g.40807403_40807405del" "" "NA" "" "0000181744" "2" "90" "13" "41381546" "41381546" "subst" "0" "00006" "SLC25A15_000016" "g.41381546G>A" "" "{PMID:Salvi 2001:11552031}" "MaeIII+" "" "" "Germline" "" "" "0" "" "" "g.40807410G>A" "" "pathogenic" "" "0000181745" "1" "90" "13" "41382733" "41382733" "subst" "0" "00006" "SLC25A15_000012" "g.41382733G>A" "" "{PMID:Salvi 2001:11552031}" "HpHI-" "IVS5+1G>A" "" "Germline" "" "" "0" "" "" "g.40808597G>A" "" "pathogenic" "" "0000181746" "2" "90" "13" "41382733" "41382733" "subst" "0" "00006" "SLC25A15_000012" "g.41382733G>A" "" "{PMID:Salvi 2001:11552031}" "HpHI-" "IVS5+1G>A" "" "Germline" "" "" "0" "" "" "g.40808597G>A" "" "pathogenic" "" "0000181747" "1" "90" "13" "41383721" "41383721" "subst" "1.21991E-5" "00006" "SLC25A15_000011" "g.41383721G>A" "" "{PMID:Salvi 2001:11552031}, {OMIM603861:0005}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.40809585G>A" "" "pathogenic" "" "0000181748" "2" "90" "13" "41383721" "41383721" "subst" "1.21991E-5" "00006" "SLC25A15_000011" "g.41383721G>A" "" "{PMID:Salvi 2001:11552031}, {OMIM603861:0005}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.40809585G>A" "" "pathogenic" "" "0000181749" "1" "90" "13" "41383776" "41383776" "dup" "0" "00006" "SLC25A15_000013" "g.41383776dupG" "" "{PMID:Salvi 2001:11552031}" "-" "861insG" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.40809640dupG" "" "pathogenic" "" "0000181750" "2" "90" "13" "41383776" "41383776" "dup" "0" "00006" "SLC25A15_000013" "g.41383776dupG" "" "{PMID:Salvi 2001:11552031}" "-" "861insG" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.40809640dupG" "" "pathogenic" "" "0000254365" "0" "30" "13" "41381553" "41381553" "subst" "4.87278E-5" "01943" "SLC25A15_000025" "g.41381553A>G" "" "" "" "SLC25A15(NM_014252.3):c.576A>G (p.E192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40807417A>G" "" "likely benign" "" "0000254728" "0" "30" "13" "41383714" "41383714" "subst" "4.0665E-6" "01943" "SLC25A15_000028" "g.41383714A>G" "" "" "" "SLC25A15(NM_014252.3):c.817A>G (p.M273V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40809578A>G" "" "likely benign" "" "0000308304" "0" "30" "13" "41373319" "41373319" "subst" "0.00235178" "01943" "SLC25A15_000022" "g.41373319G>A" "" "" "" "SLC25A15(NM_014252.3):c.182G>A (p.R61H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40799183G>A" "" "likely benign" "" "0000308305" "0" "30" "13" "41379247" "41379247" "subst" "0" "01943" "SLC25A15_000024" "g.41379247C>A" "" "" "" "SLC25A15(NM_014252.3):c.315-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40805111C>A" "" "likely benign" "" "0000308306" "0" "30" "13" "41382628" "41382628" "subst" "3.66008E-5" "01943" "SLC25A15_000027" "g.41382628C>T" "" "" "" "SLC25A15(NM_014252.3):c.677C>T (p.A226V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40808492C>T" "" "likely benign" "" "0000323387" "0" "50" "13" "41373309" "41373309" "subst" "0" "01804" "SLC25A15_000021" "g.41373309G>A" "" "" "" "SLC25A15(NM_014252.3):c.172G>A (p.(Val58Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40799173G>A" "" "VUS" "" "0000342096" "0" "90" "13" "41381512" "41381512" "subst" "6.49709E-5" "02327" "SLC25A15_000009" "g.41381512C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40807376C>T" "" "pathogenic" "" "0000550827" "0" "70" "13" "41367387" "41367387" "del" "0" "02329" "SLC25A15_000029" "g.41367387del" "" "" "" "SLC25A15(NM_014252.4):c.25delG (p.A9Lfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40793251del" "" "likely pathogenic" "" "0000550830" "0" "30" "13" "41382568" "41382568" "subst" "4.12885E-6" "01804" "SLC25A15_000030" "g.41382568C>T" "" "" "" "SLC25A15(NM_014252.3):c.623-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40808432C>T" "" "likely benign" "" "0000550831" "0" "10" "13" "41382711" "41382711" "subst" "0.3764" "02325" "SLC25A15_000005" "g.41382711A>T" "" "" "" "SLC25A15(NM_014252.4):c.760A>T (p.I254L), TPTE2P5(NR_038258.1):n.623-7851T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40808575A>T" "" "benign" "" "0000550832" "0" "30" "13" "41383686" "41383686" "subst" "0.000138266" "01943" "SLC25A15_000031" "g.41383686G>A" "" "" "" "SLC25A15(NM_014252.3):c.789G>A (p.T263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40809550G>A" "" "likely benign" "" "0000648791" "1" "90" "13" "41381515" "41381515" "subst" "8.1213E-6" "03575" "SLC25A15_000008" "g.41381515G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104894424}" "Germline" "" "rs104894424" "0" "" "" "g.40807379G>A" "" "pathogenic" "" "0000679821" "0" "30" "13" "41367423" "41367423" "subst" "0.000102373" "01943" "SLC25A15_000020" "g.41367423G>C" "" "" "" "SLC25A15(NM_014252.3):c.55+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000712151" "3" "70" "13" "41379331" "41379331" "subst" "0" "01807" "SLC25A15_000032" "g.41379331A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000724546" "0" "90" "13" "41373249" "41373249" "subst" "0" "02325" "SLC25A15_000033" "g.41373249C>T" "" "" "" "SLC25A15(NM_014252.4):c.112C>T (p.Q38*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724547" "0" "50" "13" "41373414" "41373414" "subst" "0.000241196" "02329" "SLC25A15_000034" "g.41373414C>T" "" "" "" "SLC25A15(NM_014252.4):c.277C>T (p.R93W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724548" "0" "50" "13" "41382583" "41382583" "subst" "0.000301004" "02325" "SLC25A15_000035" "g.41382583C>T" "" "" "" "SLC25A15(NM_014252.4):c.632C>T (p.P211L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806182" "0" "30" "13" "41373353" "41373353" "subst" "3.66187E-5" "02325" "SLC25A15_000036" "g.41373353C>T" "" "" "" "SLC25A15(NM_014252.4):c.216C>T (p.I72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863388" "0" "50" "13" "41379276" "41379276" "subst" "7.3103E-5" "01943" "SLC25A15_000037" "g.41379276G>A" "" "" "" "SLC25A15(NM_014252.3):c.337G>A (p.G113S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863389" "0" "30" "13" "41382672" "41382672" "subst" "0" "01943" "SLC25A15_000038" "g.41382672T>C" "" "" "" "SLC25A15(NM_014252.3):c.721T>C (p.S241P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987410" "3" "90" "13" "41373250" "41373253" "dup" "0" "04221" "SLC25A15_000039" "g.41373250_41373253dup" "" "" "" "" "Tessa 2009:19242930, Salvi 2001:11552031" "Germline" "yes" "rs756522093" "0" "" "" "g.40799114_40799117dup" "{CV:950666}" "pathogenic (recessive)" "ACMG" "0001000598" "0" "30" "13" "41367296" "41367296" "subst" "0" "01804" "SLC25A15_000040" "g.41367296A>T" "" "" "" "SLC25A15(NM_014252.3):c.-67A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SLC25A15 ## Count = 56 "{{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}}" "0000181716" "00019197" "10" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(=)" "3" "0000181717" "00019197" "10" "314" "22" "314" "22" "c.314+22T>A" "r.(?)" "p.(=)" "3i" "0000181718" "00019197" "10" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(=)" "4" "0000181719" "00019197" "10" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(=)" "5" "0000181720" "00019197" "10" "760" "0" "760" "0" "c.760A>T" "r.(?)" "p.(=)" "6" "0000181721" "00019197" "10" "954" "0" "954" "0" "c.*48T>A" "r.(?)" "p.(=)" "7" "0000181722" "00019197" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_7_" "0000181723" "00019197" "90" "-1" "0" "907" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_7_" "0000181724" "00019197" "90" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Ala15Val)" "2" "0000181725" "00019197" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "3" "0000181726" "00019197" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "3" "0000181727" "00019197" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "3" "0000181728" "00019197" "90" "164" "0" "164" "0" "c.164dup" "r.(?)" "p.(Tyr55Ter)" "3" "0000181729" "00019197" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Gln89*)" "3" "0000181730" "00019197" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Gln89*)" "3" "0000181731" "00019197" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "5" "0000181732" "00019197" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "5" "0000181733" "00019197" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "5" "0000181734" "00019197" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "5" "0000181735" "00019197" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "5" "0000181736" "00019197" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "5" "0000181737" "00019197" "90" "538" "0" "538" "0" "c.538G>A" "r.538g>a" "p.Glu180Lys" "5" "0000181738" "00019197" "90" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.Glu180Lys" "5" "0000181739" "00019197" "90" "562" "0" "564" "0" "c.562_564del" "r.562_564del" "p.Phe188del" "5" "0000181741" "00019197" "90" "562" "0" "564" "0" "c.562_564del" "r.562_564del" "p.Phe188del" "5" "0000181742" "00019197" "90" "562" "0" "564" "0" "c.562_564del" "r.(?)" "p.(Phe188del)" "5" "0000181743" "00019197" "90" "562" "0" "564" "0" "c.562_564del" "r.(?)" "p.Phe188del" "5" "0000181744" "00019197" "90" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Gly190Asp)" "5" "0000181745" "00019197" "90" "781" "1" "781" "1" "c.781+1G>A" "r.spl?" "p.?" "6i" "0000181746" "00019197" "90" "781" "1" "781" "1" "c.781+1G>A" "r.spl?" "p.?" "6i" "0000181747" "00019197" "90" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275Gln)" "7" "0000181748" "00019197" "90" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275Gln)" "7" "0000181749" "00019197" "90" "879" "0" "879" "0" "c.(879dupG)" "r.(?)" "p.fs" "7" "0000181750" "00019197" "90" "879" "0" "879" "0" "c.(879dupG)" "r.(?)" "p.fs" "7" "0000254365" "00019197" "30" "576" "0" "576" "0" "c.576A>G" "r.(?)" "p.(Glu192=)" "" "0000254728" "00019197" "30" "817" "0" "817" "0" "c.817A>G" "r.(?)" "p.(Met273Val)" "" "0000308304" "00019197" "30" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" "" "0000308305" "00019197" "30" "315" "-7" "315" "-7" "c.315-7C>A" "r.(=)" "p.(=)" "" "0000308306" "00019197" "30" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ala226Val)" "" "0000323387" "00019197" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Val58Met)" "" "0000342096" "00019197" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Ter)" "" "0000550827" "00019197" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Ala9LeufsTer17)" "" "0000550830" "00019197" "30" "623" "-6" "623" "-6" "c.623-6C>T" "r.(=)" "p.(=)" "" "0000550831" "00019197" "10" "760" "0" "760" "0" "c.760A>T" "r.(?)" "p.(Ile254Leu)" "" "0000550832" "00019197" "30" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Thr263=)" "" "0000648791" "00019197" "90" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Glu180Lys)" "" "0000679821" "00019197" "30" "55" "6" "55" "6" "c.55+6G>C" "r.(=)" "p.(=)" "" "0000712151" "00019197" "70" "392" "0" "392" "0" "c.392A>C" "r.(?)" "p.(Lys131Thr)" "" "0000724546" "00019197" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Gln38*)" "" "0000724547" "00019197" "50" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "" "0000724548" "00019197" "50" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Pro211Leu)" "" "0000806182" "00019197" "30" "216" "0" "216" "0" "c.216C>T" "r.(?)" "p.(Ile72=)" "" "0000863388" "00019197" "50" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Gly113Ser)" "" "0000863389" "00019197" "30" "721" "0" "721" "0" "c.721T>C" "r.(?)" "p.(Ser241Pro)" "" "0000987410" "00019197" "90" "113" "0" "116" "0" "c.113_116dup" "r.(?)" "p.(Phe40Aspfs*4)" "3" "0001000598" "00019197" "30" "-67" "0" "-67" "0" "c.-67A>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{variantid}}" "0000112998" "0000181722" "0000112998" "0000181741" "0000112999" "0000181723" "0000112999" "0000181737" "0000113000" "0000181724" "0000113001" "0000181725" "0000113001" "0000181726" "0000113002" "0000181727" "0000113002" "0000181728" "0000113003" "0000181716" "0000113004" "0000181729" "0000113004" "0000181730" "0000113005" "0000181717" "0000113006" "0000181718" "0000113007" "0000181731" "0000113007" "0000181732" "0000113008" "0000181733" "0000113008" "0000181734" "0000113009" "0000181735" "0000113009" "0000181736" "0000113010" "0000181738" "0000113011" "0000181739" "0000113012" "0000181742" "0000113012" "0000181744" "0000113013" "0000181743" "0000113014" "0000181719" "0000113015" "0000181720" "0000113016" "0000181745" "0000113016" "0000181746" "0000113017" "0000181747" "0000113017" "0000181748" "0000113018" "0000181749" "0000113018" "0000181750" "0000113019" "0000181721" "0000292102" "0000648791" "0000328219" "0000712151" "0000452966" "0000987410"