### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ISCA1) # 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}}" "ISCA1" "iron-sulfur cluster assembly 1 homolog (S. cerevisiae)" "9" "q22.1" "unknown" "NC_000009.11" "UD_136087885623" "" "https://www.LOVD.nl/ISCA1" "" "1" "28660" "81689" "611006" "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/ISCA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-28 12:44:45" "00006" "2024-11-25 10:06:09" ## 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}}" "00010156" "ISCA1" "iron-sulfur cluster assembly 1 homolog (S. cerevisiae)" "001" "NM_030940.3" "" "NP_112202.2" "" "" "" "-117" "1887" "390" "88897490" "88879461" "" "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}}" "05632" "MMDS5" "mitochondrial dysfunctions, multiple, syndrome, type 5" "AR" "617613" "" "autosomal recessive" "" "00006" "2019-07-28 12:46:00" "00006" "2024-11-25 10:00:13" "05633" "MMDS" "mitochondrial dysfunctions, multiple, syndrome" "" "" "" "" "" "00006" "2019-07-28 12:49:47" "00006" "2024-11-25 10:05:16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ISCA1" "05632" ## 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}}" "00248822" "" "" "" "2" "" "00006" "{PMID:Shukla 2017:28356563}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "yes" "India" "" "0" "" "" "" "Fam1P1/P2" "00248823" "" "" "" "2" "" "00006" "{PMID:Shukla 2017:28356563}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "India" "" "0" "" "" "" "Fam2PatP3/P4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00248822" "05633" "00248823" "05633" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05632, 05633 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000187790" "05633" "00248822" "00006" "Familial, autosomal recessive" "" "see paper; ..., early onset neurological deterioration, seizures, extensive white matter abnormalities, cortical migrational abnormalities, lactic acidosis, early demise" "" "" "" "" "" "" "MMDS5" "multiple mitochondrial dysfunctions syndrome" "0000187791" "05633" "00248823" "00006" "Familial, autosomal recessive" "" "see paper; ..., early onset neurological deterioration, seizures, extensive white matter abnormalities, cortical migrational abnormalities, lactic acidosis, early demise" "" "" "" "" "" "" "MMDS5" "multiple mitochondrial dysfunctions syndrome" ## 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}}" "0000249924" "00248822" "1" "00006" "00006" "2019-07-28 12:50:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249925" "00248823" "1" "00006" "00006" "2019-07-28 12:57:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000249924" "ISCA1" "0000249925" "ISCA1" ## 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 = 2 "{{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}}" "0000578996" "3" "90" "9" "88881089" "88881089" "subst" "4.24603E-6" "00006" "ISCA1_000001" "g.88881089C>T" "" "{PMID:Shukla 2017:28356563}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86266174C>T" "" "pathogenic (recessive)" "" "0000578997" "3" "90" "9" "88881089" "88881089" "subst" "4.24603E-6" "00006" "ISCA1_000001" "g.88881089C>T" "" "{PMID:Shukla 2017:28356563}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86266174C>T" "" "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 ISCA1 ## Count = 2 "{{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}}" "0000578996" "00010156" "90" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Glu87Lys)" "" "0000578997" "00010156" "90" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Glu87Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000249924" "0000578996" "0000249925" "0000578997"