### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MTPAP) # 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}}" "MTPAP" "mitochondrial poly(A) polymerase" "10" "p12.1" "unknown" "NC_000010.10" "UD_132119020164" "" "" "" "1" "1" "25532" "55149" "613669" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "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}}" "00000181" "MTPAP" "mitochondrial poly(A) polymerase" "001" "NM_018109.3" "" "NP_060579.3" "" "" "" "-63" "5557" "1749" "30638267" "30598730" "00001" "2013-11-07 13:55:15" "" "" "" "10" ## 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}}" "00083" "SPAX4" "Ataxia, spastic, 4, 613672 (3)" "613672" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MTPAP" "00083" ## 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 = 6 "{{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}}" "0000000190" "0" "99" "10" "30602855" "30602855" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:11:21" "MTPAP_000001" "g.30602855T>C" "" "{PMID:25008111:25008111};{PMID:20970105:20970105}" "" "rs267606900" "subst" "0" "; clinVar; Ensembl;" "5.760" "" "" "" "" "MSCV_0000190" "" "0000015781" "0" "55" "10" "30602819" "30602819" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:50:11" "MTPAP_000004" "g.30602819C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015781" "" "0000015782" "0" "99" "10" "30602855" "30602855" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:22:35" "MTPAP_000001" "g.30602855T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000190" "" "0000015783" "0" "11" "10" "30629136" "30629136" "subst" "35" "0.269183" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:22:36" "MTPAP_000002" "g.30629136G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015783" "" "0000015784" "0" "11" "10" "30629226" "30629226" "subst" "35" "0.262264" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:22:37" "MTPAP_000003" "g.30629226G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015784" "" "0000023937" "0" "00" "10" "30629364" "30629364" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:38:25" "MTPAP_000005" "g.30629364C>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 = 6 "{{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}}" "0000000190" "00000181" "99" "1432" "0" "1432" "0" "c.1432A>G" "9/9" "p.(Asn478Asp)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000015781" "00000181" "00" "1468" "0" "1468" "0" "c.1468G>T" "" "p.(Val490Leu)" "r.(?)" "" "" "" "" "" "-" "0000015782" "00000181" "00" "1432" "0" "1432" "0" "c.1432A>G" "" "p.(Asn478Asp)" "r.(?)" "" "" "" "" "" "-" "0000015783" "00000181" "00" "555" "19" "555" "19" "c.555+19C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015784" "00000181" "00" "484" "0" "484" "0" "c.484C>T" "" "p.(Arg162Cys)" "r.(?)" "" "" "" "" "" "-" "0000023937" "00000181" "00" "346" "0" "346" "0" "c.346G>A" "" "p.(Val116Ile)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0