### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ATP8) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "MT-ATP8" "mitochondrially encoded ATP synthase 8" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7415" "4509" "516070" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "Y" "" "2" "Mitochondria chromosome located genes from HGNC" "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "00000" "0000-00-00 00:00:00" "00000" "0000-00-00 00:00:00" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "{{iNote}}" "{{chrom}}" "00001336" "MT-ATP8" "MT-ATP8-201" "000" "MT-ATP8-201" "ENST00000361851" "" "ENSP00000355265" "" "" "0" "0" "0" "8366" "8572" "00001" "2013-11-15 15:00:00" "00000" "2015-03-12 15:00:00" "Manually imported from Ensembl Biomart" "M" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00570" "500006" "500006 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC" "500006" "" "Evidence that infantile hypertrophic cardiomyopathy can be caused by mutation in the overlapping MTATP6 (516060) and MTATP8 (516070) genes.\r\n\r\n▼ Molecular Genetics\r\n\r\nIn 4 unrelated infants who presented with isolated hypertrophic cardiomyopathy and congestive heart failure and who later developed severe feeding difficulties and failure to thrive, Ware et al. (2009) identified an 8528T-C transition, resulting in concurrent changes in the overlapping MTATP6 and MTATP8 genes, M1T (516060.0010) and W55R (516070.0003), respectively. Ware et al. (2009) stated that this was the first description of a mitochondrial mutation affecting both complex V genes." "" "00001" "2018-07-08 17:27:51" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MT-ATP8" "00142" "MT-ATP8" "00570" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 12 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000001433" "0" "77" "M" "8393" "8393" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000199" "m.8393C>T" "" "{PMID:17101920:17101920};{PMID:9243242:9243242}" "" "rs121434446" "subst" "0" "; clinVar; Mitomap; ensembl;" "-2.880" "" "" "" "" "MSCV_0001433" "" "0000001435" "0" "99" "M" "8529" "8529" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000052" "m.8529G>A" "" "{PMID:17954552:17954552}" "" "rs267606881" "subst" "0" "; clinVar; Mitomap; Ensembl;" "5.070" "" "" "" "" "MSCV_0001435" "" "0000004897" "0" "77" "M" "8381" "8381" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-07-06 06:31:02" "chrM_001330" "m.8381A>G" "" "" "" "" "subst" "0" "; Mitomap;" "5.010" "" "" "" "" "MSCV_0004897" "" "0000004900" "0" "77" "M" "8411" "8411" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-24 13:03:08" "chrM_001331" "m.8411A>C" "" "" "" "rs200715932" "subst" "0" "; Mitomap;" "0.450" "" "" "" "" "MSCV_0004900" "" "0000004901" "0" "77" "M" "8411" "8411" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001332" "m.8411A>G" "" "" "" "rs200715932" "subst" "0" "; Mitomap;" "0.450" "" "" "" "" "MSCV_0004901" "" "0000004902" "0" "77" "M" "8414" "8414" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001333" "m.8414C>T" "" "" "" "rs28358884" "subst" "0" "; Mitomap;" "-9.590" "" "" "" "" "MSCV_0004902" "" "0000004903" "0" "55" "M" "8417" "8417" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001194" "m.8417C>T" "" "" "" "rs199616772" "subst" "0" ";" "-9.590" "" "" "" "" "MSCV_0004903" "" "0000004904" "0" "55" "M" "8428" "8428" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001195" "m.8428C>T" "" "" "" "rs1116905" "subst" "0" ";" "-10.000" "" "" "" "" "MSCV_0004904" "" "0000004905" "0" "55" "M" "8450" "8450" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001196" "m.8450T>G" "" "" "" "rs28461343" "subst" "0" ";" "-5.220" "" "" "" "" "MSCV_0004905" "" "0000004906" "0" "55" "M" "8460" "8460" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001197" "m.8460A>G" "" "" "" "rs1116906" "subst" "0" ";" "-8.860" "" "" "" "" "MSCV_0004906" "" "0000004907" "0" "55" "M" "8468" "8468" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001198" "m.8468C>T" "" "" "" "rs1116907" "subst" "0" ";" "-9.460" "" "" "" "" "MSCV_0004907" "" "0000004908" "0" "55" "M" "8478" "8478" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001199" "m.8478C>T" "" "" "" "rs201902227" "subst" "0" ";" "-8.170" "" "" "" "" "MSCV_0004908" "" ## 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. ## Count = 12 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000001433" "00001336" "77" "0" "0" "0" "0" "c.28C>T" "." "p.P10S" "r.(?)" "" "" "" "" "" "-" "0000001435" "00001336" "99" "0" "0" "0" "0" "c.164G>A" "." "p.W55*" "r.(?)" "" "" "" "" "" "-" "0000004897" "00001336" "77" "0" "0" "0" "0" "c.16A>G" "." "p.T6A" "r.(?)" "" "" "" "" "" "-" "0000004900" "00001336" "77" "0" "0" "0" "0" "c.46A>C" "." "p.M16L" "r.(?)" "" "" "" "" "" "-" "0000004901" "00001336" "77" "0" "0" "0" "0" "c.46A>G" "." "p.M16V" "r.(?)" "" "" "" "" "" "-" "0000004902" "00001336" "77" "0" "0" "0" "0" "c.49C>T" "." "p.L17F" "r.(?)" "" "" "" "" "" "-" "0000004903" "00001336" "55" "0" "0" "0" "0" "c.52C>T" "." "p.L18F" "r.(?)" "" "" "" "" "" "-" "0000004904" "00001336" "55" "0" "0" "0" "0" "c.63C>T" "." "p.F21F" "r.(?)" "" "" "" "" "" "-" "0000004905" "00001336" "55" "0" "0" "0" "0" "c.85T>G" "." "p.L29V" "r.(?)" "" "" "" "" "" "-" "0000004906" "00001336" "55" "0" "0" "0" "0" "c.95A>G" "." "p.N32S" "r.(?)" "" "" "" "" "" "-" "0000004907" "00001336" "55" "0" "0" "0" "0" "c.103C>T" "." "p.L35L" "r.(?)" "" "" "" "" "" "-" "0000004908" "00001336" "55" "0" "0" "0" "0" "c.113C>T" "." "p.S38L" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0