### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A32) # 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}}" "SLC25A32" "solute carrier family 25 (mitochondrial folate carrier) , member 32" "8" "q22.3" "unknown" "NC_000008.10" "UD_132609900867" "" "https://www.LOVD.nl/SLC25A32" "" "1" "29683" "81034" "610815" "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" "2016-12-16 10:31:05" "00000" "2020-09-15 15:50:26" ## 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}}" "00019214" "SLC25A32" "solute carrier family 25, member 32" "001" "NM_030780.3" "" "NP_110407.2" "" "" "" "-303" "2721" "948" "104427468" "104410866" "" "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}}" "05211" "RREI" "intolerance, excercise, riboflavin-responsive (RREI)" "AR" "616839" "" "" "" "00006" "2016-12-16 10:33:16" "00006" "2021-12-10 21:51:32" "05212" "AMDME" "ataxia, myoclonia, dysarthria, muscle weakness, exercise intolerance" "" "" "brain;skeletal muscle" "severe neuromuscular phenotype" "" "01852" "2016-12-22 09:52:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC25A32" "05211" "SLC25A32" "05212" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00092290" "" "" "" "1" "" "01852" "{PMID:Schiff 2016:26933868}" "" "F" "?" "" "" "0" "" "Riboflavin" "" "" "00092291" "" "" "" "1" "" "01852" "{PMID:Schiff 2016:26933868}" "" "F" "?" "" "" "0" "" "Riboflavin" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00092290" "05211" "00092291" "05211" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05211, 05212 ## Count = 2 "{{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}}" "0000070632" "05211" "00092290" "01852" "Familial, autosomal recessive" "14y" "biochemical features of multiple acyl-coenzyme A dehydrogenation deficiency" "" "" "" "" "" "" "" "" "" "0000070633" "05211" "00092291" "01852" "Familial, autosomal recessive" "14y" "biochemical features of multiple acyl-coenzyme A dehydrogenation deficiency" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000092430" "00092290" "1" "01852" "01852" "2016-12-22 09:34:44" "" "" "?" "DNA" "" "" "0000092431" "00092291" "1" "01852" "01852" "2016-12-22 09:42:21" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000092430" "SLC25A32" "0000092431" "SLC25A32" ## 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 = 5 "{{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}}" "0000150754" "1" "90" "8" "104415519" "104415519" "subst" "3.25121E-5" "01852" "SLC25A32_000001" "g.104415519C>T" "" "{PMID:Schiff 2016:26933868}" "" "" "" "Germline" "" "" "0" "" "" "g.103403291C>T" "" "pathogenic" "" "0000150755" "2" "90" "8" "104415504" "104415504" "subst" "7.31434E-5" "01852" "SLC25A32_000002" "g.104415504C>T" "" "{PMID:Schiff 2016:26933868}" "" "" "2nd mutation in this patient: c.425G>A" "Germline" "" "" "0" "" "" "g.103403276C>T" "" "pathogenic" "" "0000150758" "2" "90" "8" "104415504" "104415504" "subst" "7.31434E-5" "01852" "SLC25A32_000002" "g.104415504C>T" "" "{PMID:Schiff 2016:26933868}" "" "" "" "Germline" "" "" "0" "" "" "g.103403276C>T" "" "pathogenic" "" "0000655954" "0" "30" "8" "104413815" "104413815" "subst" "0" "01943" "DCAF13_000001" "g.104413815G>A" "" "" "" "SLC25A32(NM_030780.4):c.741C>T (p.V247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103401587G>A" "" "likely benign" "" "0000690129" "0" "50" "8" "104419956" "104419956" "subst" "6.09543E-5" "01943" "DCAF13_000002" "g.104419956T>C" "" "" "" "SLC25A32(NM_030780.4):c.211A>G (p.T71A)" "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 SLC25A32 ## Count = 5 "{{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}}" "0000150754" "00019214" "90" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Trp142*)" "4" "0000150755" "00019214" "90" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147His)" "4" "0000150758" "00019214" "90" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147His)" "4" "0000655954" "00019214" "30" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Val247=)" "" "0000690129" "00019214" "50" "211" "0" "211" "0" "c.211A>G" "r.(?)" "p.(Thr71Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000092430" "0000150754" "0000092430" "0000150758" "0000092431" "0000150755"