### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDHX) # 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}}" "PDHX" "pyruvate dehydrogenase complex, component X" "11" "p13" "unknown" "NC_000011.9" "UD_132118548169" "" "" "" "1" "1" "21350" "8050" "608769" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "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}}" "00000252" "PDHX" "transcript variant 1" "001" "NM_003477.2" "" "NP_003468.2" "" "" "" "-526" "2462" "1506" "34937677" "35017675" "00001" "2013-11-07 13:57:51" "" "" "" "11" "00000253" "PDHX" "transcript variant 3" "002" "NM_001166158.1" "" "NP_001159630.1" "" "" "" "-526" "1781" "825" "34937677" "35017675" "00001" "2013-11-07 13:57:51" "" "" "" "11" "00000254" "PDHX" "transcript variant 2" "003" "NM_001135024.1" "" "NP_001128496.1" "" "" "" "-242" "2417" "1461" "34937677" "35017675" "00001" "2013-11-07 13:57:51" "" "" "" "11" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 4 "{{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}}" "0000000290" "0" "99" "11" "34938246" "34938246" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-23 09:41:58" "PDHX_000001" "g.34938246G>A" "" "" "" "" "subst" "0" ";" "5.330" "" "" "" "" "MSCV_0000290" "" "0000000291" "0" "99" "11" "34988287" "34988287" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-23 10:30:11" "PDHX_000002" "g.34988287C>G" "" "{PMID:17152059:17152059}" "" "rs113309941" "subst" "0" "; clinvar; ensembl;" "3.640" "" "" "" "" "MSCV_0000291" "" "0000000292" "0" "99" "11" "34988287" "34988287" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-23 09:54:04" "PDHX_000003" "g.34988287C>T" "" "{PMID:17152059:17152059}" "" "rs113309941" "subst" "0" "; clinvar; ensembl;" "3.640" "" "" "" "" "MSCV_0000292" "" "0000024103" "0" "00" "11" "34938006" "34938006" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:48:38" "PDHX_000004" "g.34938006del" "" "" "" "" "" "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 = 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}}" "0000000290" "00000252" "55" "44" "0" "44" "0" "c.44G>A" "1/6" "p.?" "r.?" "probably_damaging(0.983)" "" "missense_variant" "" "" "deleterious(0)" "0000000290" "00000253" "55" "44" "0" "44" "0" "c.44G>A" "1/6" "p.(Arg15His)" "r.(?)" "probably_damaging(0.983)" "" "missense_variant" "" "" "deleterious(0)" "0000000290" "00000254" "55" "115" "213" "115" "213" "c.115+213G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000291" "00000252" "99" "742" "0" "742" "0" "c.742C>G" "6/11" "p.?" "r.?" "benign(0.002)" "" "missense_variant" "" "" "tolerated(0.98)" "0000000291" "00000253" "99" "343" "-17830" "343" "-17830" "c.343-17830C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000291" "00000254" "99" "697" "0" "697" "0" "c.697C>G" "6/11" "p.(Gln233Glu)" "r.(?)" "benign(0.002)" "" "missense_variant" "" "" "tolerated(1)" "0000000292" "00000252" "99" "742" "0" "742" "0" "c.742C>T" "6/11" "p.?" "r.?" "-" "" "stop_gained" "" "" "-" "0000000292" "00000253" "99" "343" "-17830" "343" "-17830" "c.343-17830C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000292" "00000254" "99" "697" "0" "697" "0" "c.697C>T" "6/11" "p.(Gln233*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000024103" "00000252" "00" "-197" "0" "-197" "0" "c.-197del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024103" "00000253" "00" "-197" "0" "-197" "0" "c.-197del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024103" "00000254" "00" "88" "0" "88" "0" "c.88del" "" "p.(Ser30Profs*16)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0