### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MPC1) # 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}}" "MPC1" "mitochondrial pyruvate carrier 1" "6" "q27" "unknown" "NC_000006.11" "UD_136089258663" "" "" "" "1" "1" "21606" "51660" "614738" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.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 = 3 "{{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}}" "00000170" "MPC1" "transcript variant 1" "001" "NM_016098.3" "" "NP_057182.1" "" "" "" "-137" "840" "330" "166796501" "166778407" "00001" "2013-11-07 13:54:33" "" "" "" "6" "00000171" "MPC1" "transcript variant 2" "002" "NM_001270879.1" "" "NP_001257808.1" "" "" "" "-482" "711" "201" "166796501" "166778407" "00001" "2013-11-07 13:54:33" "" "" "" "6" "00000172" "MPC1" "transcript variant 3" "003" "NR_073093.1" "" "" "" "" "" "1" "1206" "1206" "166796501" "166778407" "00001" "2013-11-07 13:54:33" "" "" "" "6" ## 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}}" "00041" "MPYCD" "Mitochondrial pyruvate carrier deficiency, 614741 (3)" "614741" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MPC1" "00041" ## 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 = 5 "{{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}}" "0000001217" "0" "99" "6" "166779478" "166779478" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-06 20:40:35" "MPC1_000001" "g.166779478G>A" "" "{PMID:12649063:12649063};{PMID:22628558:22628558}" "" "rs387907237" "subst" "0" "; clinVar; ensembl;" "2.160" "" "" "" "" "MSCV_0001217" "" "0000001218" "0" "99" "6" "166779531" "166779531" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-08 04:33:03" "MPC1_000002" "g.166779531A>T" "" "{PMID:22628558:22628558}" "" "rs387907238" "subst" "0" "; clinVar; ensembl;" "5.930" "" "" "" "" "MSCV_0001218" "" "0000022189" "0" "99" "6" "166779478" "166779478" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-02-15 21:35:48" "MPC1_000001" "g.166779478G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001217" "" "0000022190" "0" "99" "6" "166779531" "166779531" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-06 20:02:42" "MPC1_000002" "g.166779531A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001218" "" "0000022191" "0" "77" "6" "166779553" "166779553" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:42:32" "MPC1_000003" "g.166779553T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022191" "" ## 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 = 15 "{{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}}" "0000001217" "00000170" "99" "289" "0" "289" "0" "c.289C>T" "4/5" "p.(Arg97Trp)" "r.(?)" "possibly_damaging(0.741)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001217" "00000171" "99" "160" "0" "160" "0" "c.160C>T" "5/6" "p.(Arg54Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001217" "00000172" "99" "655" "0" "655" "0" "n.655C>T" "5/6" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001218" "00000170" "99" "236" "0" "236" "0" "c.236T>A" "4/5" "p.(Leu79His)" "r.(?)" "possibly_damaging(0.767)" "" "missense_variant" "" "" "deleterious(0)" "0000001218" "00000171" "99" "107" "0" "107" "0" "c.107T>A" "5/6" "p.(Leu36His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001218" "00000172" "99" "602" "0" "602" "0" "n.602T>A" "5/6" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000022189" "00000170" "00" "289" "0" "289" "0" "c.289C>T" "" "p.(Arg97Trp)" "r.(?)" "" "" "" "" "" "-" "0000022189" "00000171" "00" "160" "0" "160" "0" "c.160C>T" "" "p.(Arg54Trp)" "r.(?)" "" "" "" "" "" "-" "0000022189" "00000172" "00" "655" "0" "655" "0" "n.655C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000022190" "00000170" "00" "236" "0" "236" "0" "c.236T>A" "" "p.(Leu79His)" "r.(?)" "" "" "" "" "" "-" "0000022190" "00000171" "00" "107" "0" "107" "0" "c.107T>A" "" "p.(Leu36His)" "r.(?)" "" "" "" "" "" "-" "0000022190" "00000172" "00" "602" "0" "602" "0" "n.602T>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000022191" "00000170" "00" "214" "0" "214" "0" "c.214A>G" "" "p.(Lys72Glu)" "r.(?)" "" "" "" "" "" "-" "0000022191" "00000171" "00" "85" "0" "85" "0" "c.85A>G" "" "p.(Lys29Glu)" "r.(?)" "" "" "" "" "" "-" "0000022191" "00000172" "00" "580" "0" "580" "0" "n.580A>G" "" "-" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0