### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDSS1) # 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}}" "PDSS1" "prenyl (decaprenyl) diphosphate synthase, subunit 1" "10" "p12.2" "unknown" "NC_000010.10" "UD_138312341428" "" "" "" "1" "1" "17759" "23590" "607429" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; 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}}" "00000260" "PDSS1" "transcript variant X1" "001" "XM_005252438.1" "" "XP_005252495.1" "" "" "" "-288" "1382" "921" "26986353" "27035727" "00001" "2013-11-07 13:58:00" "" "" "" "10" "00000261" "PDSS1" "prenyl (decaprenyl) diphosphate synthase, subunit 1" "002" "NM_014317.3" "" "NP_055132.2" "" "" "" "-46" "1573" "1248" "26986595" "27035727" "00001" "2013-11-07 13:58:00" "" "" "" "10" "00000262" "PDSS1" "transcript variant X2" "003" "XM_005252439.1" "" "XP_005252496.1" "" "" "" "-344" "1063" "738" "26994237" "27035727" "00001" "2013-11-07 13:58:00" "" "" "" "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}}" "00446" "COQ10D2" "COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2" "614651" "" "" "" "00001" "2014-04-10 15:30:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PDSS1" "00446" ## 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 = 28 "{{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}}" "0000000189" "0" "99" "10" "27024406" "27024406" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-09 10:11:50" "PDSS1_000001" "g.27024406T>G" "" "{PMID:17332895:17332895}" "" "rs119463988" "subst" "0" "; clinvar; ensembl;" "-5.730" "" "" "" "" "MSCV_0000189" "" "0000015776" "0" "77" "10" "26986729" "26986729" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:36:25" "PDSS1_000004" "g.26986729G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015776" "" "0000015777" "0" "77" "10" "27009268" "27009268" "subst" "35" "0.00146086" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:36:28" "PDSS1_000005" "g.27009268A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015777" "" "0000015778" "0" "99" "10" "27012786" "27012787" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:37:12" "PDSS1_000002" "g.27012786_27012787insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015778" "" "0000015779" "0" "99" "10" "27024406" "27024406" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:37:15" "PDSS1_000001" "g.27024406T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000189" "" "0000015780" "0" "99" "10" "27035262" "27035262" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:37:18" "PDSS1_000003" "g.27035262A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015780" "" "0000023914" "0" "00" "10" "26986612" "26986612" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:12:09" "PDSS1_000027" "g.26986612C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023915" "0" "00" "10" "26986691" "26986691" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:30" "PDSS1_000018" "g.26986691G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023916" "0" "00" "10" "26986723" "26986723" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:52" "PDSS1_000019" "g.26986723G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023917" "0" "00" "10" "26986737" "26986737" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:03" "PDSS1_000020" "g.26986737G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023918" "0" "00" "10" "26986776" "26986776" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:14" "PDSS1_000021" "g.26986776T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023919" "0" "00" "10" "26991081" "26991081" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:27" "PDSS1_000022" "g.26991081G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023920" "0" "00" "10" "26991136" "26991136" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:40" "PDSS1_000023" "g.26991136A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023921" "0" "00" "10" "26993594" "26993594" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:46:13" "PDSS1_000024" "g.26993594T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023922" "0" "00" "10" "26993598" "26993598" "del" "35" "0.26312" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:46:27" "PDSS1_000025" "g.26993598del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023923" "0" "00" "10" "26993654" "26993660" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:46:40" "PDSS1_000026" "g.26993654_26993660del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023924" "0" "00" "10" "26994230" "26994230" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:37:49" "PDSS1_000006" "g.26994230C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023926" "0" "00" "10" "26998656" "26998656" "subst" "35" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:48" "PDSS1_000007" "g.26998656G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023927" "0" "00" "10" "27024197" "27024197" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-31 10:33:35" "PDSS1_000008" "g.27024197T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023928" "0" "00" "10" "27024423" "27024423" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:14" "PDSS1_000009" "g.27024423C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023929" "0" "00" "10" "27031414" "27031415" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:27" "PDSS1_000010" "g.27031414_27031415del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023930" "0" "00" "10" "27035442" "27035442" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-14 01:50:34" "PDSS1_000011" "g.27035442T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023931" "0" "00" "10" "27035449" "27035449" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:54" "PDSS1_000012" "g.27035449A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023932" "0" "00" "10" "27035478" "27035478" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:07" "PDSS1_000013" "g.27035478C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023933" "0" "00" "10" "27035510" "27035511" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:20" "PDSS1_000014" "g.27035510_27035511insAGAT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023934" "0" "00" "10" "27035559" "27035559" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:51" "PDSS1_000015" "g.27035559T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023935" "0" "00" "10" "27035664" "27035664" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:42:31" "PDSS1_000016" "g.27035664T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023936" "0" "00" "10" "27035666" "27035666" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:22" "PDSS1_000017" "g.27035666A>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 = 78 "{{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}}" "0000000189" "00000260" "99" "836" "-7020" "836" "-7020" "c.836-7020T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000189" "00000261" "99" "924" "0" "924" "0" "c.924T>G" "10/12" "p.(Asp308Glu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000189" "00000262" "99" "414" "0" "414" "0" "c.414T>G" "7/9" "p.(Asp138Glu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000015776" "00000260" "00" "89" "0" "89" "0" "c.89G>T" "" "p.(Gly30Val)" "r.(?)" "" "" "" "" "" "-" "0000015776" "00000261" "00" "89" "0" "89" "0" "c.89G>T" "" "p.(Gly30Val)" "r.(?)" "" "" "" "" "" "-" "0000015777" "00000260" "00" "589" "0" "589" "0" "c.589A>G" "" "p.(Lys197Glu)" "r.(?)" "" "" "" "" "" "-" "0000015777" "00000261" "00" "589" "0" "589" "0" "c.589A>G" "" "p.(Lys197Glu)" "r.(?)" "" "" "" "" "" "-" "0000015777" "00000262" "00" "79" "0" "79" "0" "c.79A>G" "" "p.(Lys27Glu)" "r.(?)" "" "" "" "" "" "-" "0000015778" "00000260" "00" "661" "0" "662" "0" "c.661_662insT" "" "p.(Arg221Leufs*16)" "r.(?)" "" "" "" "" "" "-" "0000015778" "00000261" "00" "661" "0" "662" "0" "c.661_662insT" "" "p.(Arg221Leufs*16)" "r.(?)" "" "" "" "" "" "-" "0000015778" "00000262" "00" "151" "0" "152" "0" "c.151_152insT" "" "p.(Arg51Leufs*16)" "r.(?)" "" "" "" "" "" "-" "0000015779" "00000260" "00" "836" "-7020" "836" "-7020" "c.836-7020T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015779" "00000261" "00" "924" "0" "924" "0" "c.924T>G" "" "p.(Asp308Glu)" "r.(?)" "" "" "" "" "" "-" "0000015779" "00000262" "00" "414" "0" "414" "0" "c.414T>G" "" "p.(Asp138Glu)" "r.(?)" "" "" "" "" "" "-" "0000015780" "00000260" "00" "917" "0" "917" "0" "c.917A>C" "" "p.(Glu306Ala)" "r.(?)" "" "" "" "" "" "-" "0000015780" "00000261" "00" "1108" "0" "1108" "0" "c.1108A>C" "" "p.(Ser370Arg)" "r.(?)" "" "" "" "" "" "-" "0000015780" "00000262" "00" "598" "0" "598" "0" "c.598A>C" "" "p.(Ser200Arg)" "r.(?)" "" "" "" "" "" "-" "0000023914" "00000260" "00" "-29" "0" "-29" "0" "c.-29C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023914" "00000261" "00" "-29" "0" "-29" "0" "c.-29C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023915" "00000260" "00" "51" "0" "51" "0" "c.51G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023915" "00000261" "00" "51" "0" "51" "0" "c.51G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023916" "00000260" "00" "83" "0" "83" "0" "c.83G>T" "" "p.(Arg28Leu)" "r.(?)" "" "" "" "" "" "-" "0000023916" "00000261" "00" "83" "0" "83" "0" "c.83G>T" "" "p.(Arg28Leu)" "r.(?)" "" "" "" "" "" "-" "0000023917" "00000260" "00" "97" "0" "97" "0" "c.97G>A" "" "p.(Gly33Arg)" "r.(?)" "" "" "" "" "" "-" "0000023917" "00000261" "00" "97" "0" "97" "0" "c.97G>A" "" "p.(Gly33Arg)" "r.(?)" "" "" "" "" "" "-" "0000023918" "00000260" "00" "129" "7" "129" "7" "c.129+7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023918" "00000261" "00" "129" "7" "129" "7" "c.129+7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023919" "00000260" "00" "130" "-10" "130" "-10" "c.130-10G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023919" "00000261" "00" "130" "-10" "130" "-10" "c.130-10G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023919" "00000262" "00" "-344" "-3156" "-344" "-3156" "c.-3500G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023920" "00000260" "00" "162" "13" "162" "13" "c.162+13A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023920" "00000261" "00" "162" "13" "162" "13" "c.162+13A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023920" "00000262" "00" "-344" "-3101" "-344" "-3101" "c.-3445A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023921" "00000260" "00" "163" "-12" "163" "-12" "c.163-12T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023921" "00000261" "00" "163" "-12" "163" "-12" "c.163-12T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023921" "00000262" "00" "-344" "-643" "-344" "-643" "c.-987T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023922" "00000260" "00" "163" "-8" "163" "-8" "c.163-8del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023922" "00000261" "00" "163" "-8" "163" "-8" "c.163-8del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023922" "00000262" "00" "-344" "-639" "-344" "-639" "c.-983del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023923" "00000260" "00" "211" "0" "217" "0" "c.211_217del" "" "p.(Cys72Tyrfs*30)" "r.(?)" "" "" "" "" "" "-" "0000023923" "00000261" "00" "211" "0" "217" "0" "c.211_217del" "" "p.(Cys72Tyrfs*30)" "r.(?)" "" "" "" "" "" "-" "0000023923" "00000262" "00" "-344" "-583" "-344" "-577" "c.-927_-921del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023924" "00000260" "00" "243" "0" "243" "0" "c.243C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023924" "00000261" "00" "243" "0" "243" "0" "c.243C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023924" "00000262" "00" "-344" "-7" "-344" "-7" "c.-351C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023926" "00000260" "00" "426" "0" "426" "0" "c.426G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023926" "00000261" "00" "426" "0" "426" "0" "c.426G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023926" "00000262" "00" "-168" "0" "-168" "0" "c.-168G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023927" "00000260" "00" "836" "-7229" "836" "-7229" "c.836-7229T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023927" "00000261" "00" "860" "0" "860" "0" "c.860T>C" "" "p.(Val287Ala)" "r.(?)" "" "" "" "" "" "-" "0000023927" "00000262" "00" "350" "0" "350" "0" "c.350T>C" "" "p.(Val117Ala)" "r.(?)" "" "" "" "" "" "-" "0000023928" "00000260" "00" "836" "-7003" "836" "-7003" "c.836-7003C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023928" "00000261" "00" "941" "0" "941" "0" "c.941C>T" "" "p.(Ser314Leu)" "r.(?)" "" "" "" "" "" "-" "0000023928" "00000262" "00" "431" "0" "431" "0" "c.431C>T" "" "p.(Ser144Leu)" "r.(?)" 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