### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MIPEP) # 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}}" "MIPEP" "mitochondrial intermediate peptidase" "13" "q12" "unknown" "NC_000013.10" "UD_132319701423" "" "" "" "1" "1" "7104" "4285" "602241" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 15:44:54" "" "" "" "" "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}}" "00002216" "MIPEP" "mitochondrial intermediate peptidase" "001" "NM_005932.3" "" "NP_005923.2" "" "" "" "-128" "2301" "2142" "24463587" "24304328" "00001" "2013-11-15 15:52:58" "" "" "" "13" ## 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}}" "00522" "617228" "Combined oxidative phosphorylation deficiency 31, 617228 (3)" "617228" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MIPEP" "00522" ## 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 = 9 "{{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}}" "0000017187" "0" "99" "13" "24380133" "24380133" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-03-12 09:01:18" "MIPEP_000001" "g.24380133C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017187" "" "0000017188" "0" "55" "13" "24380192" "24380192" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-03-12 04:29:59" "MIPEP_000002" "g.24380192A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017188" "" "0000017189" "0" "55" "13" "24411700" "24411700" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-19 16:46:46" "MIPEP_000003" "g.24411700G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017189" "" "0000017190" "0" "55" "13" "24436467" "24436467" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-03-12 04:36:05" "MIPEP_000004" "g.24436467T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017190" "" "0000017191" "0" "55" "13" "24443458" "24443458" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-03-12 07:07:37" "MIPEP_000005" "g.24443458G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017191" "" "0000017192" "0" "55" "13" "24460623" "24460623" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-03-12 08:23:23" "MIPEP_000006" "g.24460623A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017192" "" "0000024774" "0" "00" "13" "24384038" "24384038" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-03-12 04:30:08" "MIPEP_000009" "g.24384038C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024775" "0" "00" "13" "24453461" "24453461" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-03-12 06:29:45" "MIPEP_000007" "g.24453461A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024776" "0" "00" "13" "24460477" "24460477" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-20 20:31:44" "MIPEP_000008" "g.24460477C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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 = 9 "{{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}}" "0000017187" "00002216" "00" "1804" "0" "1804" "0" "c.1804G>T" "" "p.(Glu602*)" "r.(?)" "" "" "" "" "" "-" "0000017188" "00002216" "00" "1745" "0" "1745" "0" "c.1745T>G" "" "p.(Leu582Arg)" "r.(?)" "" "" "" "" "" "-" "0000017189" "00002216" "00" "1534" "0" "1534" "0" "c.1534C>G" "" "p.(His512Asp)" "r.(?)" "" "" "" "" "" "-" "0000017190" "00002216" "00" "1027" "0" "1027" "0" "c.1027A>G" "" "p.(Lys343Glu)" "r.(?)" "" "" "" "" "" "-" "0000017191" "00002216" "00" "916" "0" "916" "0" "c.916C>T" "" "p.(Leu306Phe)" "r.(?)" "" "" "" "" "" "-" "0000017192" "00002216" "00" "212" "0" "212" "0" "c.212T>A" "" "p.(Leu71Gln)" "r.(?)" "" "" "" "" "" "-" "0000024774" "00002216" "00" "1679" "0" "1679" "0" "c.1679G>A" "" "p.(Arg560His)" "r.(?)" "" "" "" "" "" "-" "0000024775" "00002216" "00" "485" "0" "485" "0" "c.485T>G" "" "p.(Leu162Trp)" "r.(?)" "" "" "" "" "" "-" "0000024776" "00002216" "00" "358" "0" "358" "0" "c.358G>A" "" "p.(Asp120Asn)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0