### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ATP5D)
# 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}}"
"ATP5D" "ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit" "19" "p13.3" "unknown" "NC_000019.9" "UD_136085697922" "" "https://www.LOVD.nl/ATP5F1D" "" "1" "837" "513" "603150" "1" "1" "1" "1" "The gene has been renamed to ATP5F1D.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ATP5D_codingDNA.html" "1" "" "The gene has been renamed to ATP5F1D." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 13:27:59" "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}}"
"00003080" "ATP5D" "transcript variant 1" "001" "NM_001687.4" "" "NP_001678.1" "" "" "" "-101" "895" "507" "1241749" "1244824" "" "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}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"06429" "MC5DN5" "Mi complex V (ATP synthase) deficiency" "AR" "618120" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"ATP5D" "06429"
## 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}}"
"00155737" "" "" "" "1" "" "00006" "{PMID:Olahova 2018:29478781}" "" "F" "yes" "United States" "" "0" "" "" "Mexican-American" "29478781-Pat1"
"00155738" "" "" "" "1" "" "00006" "{PMID:Olahova 2018:29478781}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "29478781-Pat2"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00155737" "00198"
"00155738" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 06429
## Count = 2
"{{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}}"
"0000128120" "00198" "00155737" "00006" "Familial, autosomal recessive" "" "hyperammonemia, cardiomyopathy, lactic acidosis, rhabdomyolysis, fatigability, short stature; muscle biopsy normal histology\r\nand respiratory chain enzymes" "00y00m02d" "" "" "" "" "" "" "" "" "metabolic disorder" ""
"0000128121" "00198" "00155738" "00006" "Familial, autosomal recessive" "" "hyperammonemia, ketoacidosis, delayed speech; muscle biopsy normal histology and respiratory chain enzymes" "04y10m" "" "" "" "" "" "" "" "" "metabolic disorder" ""
## 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}}"
"0000156602" "00155737" "1" "00006" "00006" "2018-03-25 11:00:23" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000156603" "00155738" "1" "00006" "00006" "2018-03-25 11:05:09" "" "" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000156602" "ATP5D"
"0000156603" "ATP5D"
## 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 = 7
"{{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}}"
"0000263289" "0" "50" "19" "1244381" "1244381" "subst" "0.0001448" "01943" "ATP5D_000001" "g.1244381C>T" "" "" "" "ATP5F1D(NM_001687.5):c.452C>T (p.A151V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1244382C>T" "" "VUS" ""
"0000263290" "0" "50" "19" "1244410" "1244410" "subst" "1.84709E-5" "01943" "ATP5D_000002" "g.1244410G>A" "" "" "" "ATP5F1D(NM_001687.5):c.481G>A (p.E161K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1244411G>A" "" "VUS" ""
"0000359642" "3" "90" "19" "1242558" "1242558" "subst" "7.0278E-6" "00006" "ATP5D_000003" "g.1242558C>T" "" "{PMID:Olahova 2018:29478781}" "" "" "" "Germline" "" "" "0" "" "" "g.1242559C>T" "" "pathogenic" ""
"0000359643" "3" "90" "19" "1244117" "1244117" "subst" "0" "00006" "ATP5D_000004" "g.1244117T>G" "" "{PMID:Olahova 2018:29478781}" "" "" "" "Germline" "" "" "0" "" "" "g.1244118T>G" "" "pathogenic" ""
"0000983198" "0" "50" "19" "1241846" "1241863" "dup" "0" "01804" "ATP5D_000005" "g.1241846_1241863dup" "" "" "" "ATP5F1D(NM_001687.5):c.-4_14dup (p.(Ala5_Leu6insAlaMetLeuProAlaAla))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000983199" "0" "10" "19" "1244112" "1244112" "subst" "0.0039484" "01804" "ATP5D_000006" "g.1244112C>T" "" "" "" "ATP5F1D(NM_001687.5):c.312C>T (p.(Ile104=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000983200" "0" "50" "19" "1244443" "1244443" "subst" "0.000186314" "01804" "ATP5D_000007" "g.1244443C>T" "" "" "" "ATP5F1D(NM_001001975.2):c.*3+4C>T" "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 ATP5D
## Count = 7
"{{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}}"
"0000263289" "00003080" "50" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Ala151Val)" ""
"0000263290" "00003080" "50" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Glu161Lys)" ""
"0000359642" "00003080" "90" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Pro82Leu)" ""
"0000359643" "00003080" "90" "317" "0" "317" "0" "c.317T>G" "r.(?)" "p.(Val106Gly)" ""
"0000983198" "00003080" "50" "-4" "0" "14" "0" "c.-4_14dup" "r.?" "p.?" ""
"0000983199" "00003080" "10" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(=)" ""
"0000983200" "00003080" "50" "514" "0" "514" "0" "c.*7C>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000156602" "0000359642"
"0000156603" "0000359643"