### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POLG2) # 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}}" "POLG2" "polymerase (DNA directed), gamma 2, accessory subunit" "17" "q23.3" "unknown" "NC_000017.10" "UD_132118815010" "" "" "" "1" "1" "9180" "11232" "604983" "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 = 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}}" "00000268" "POLG2" "polymerase (DNA directed), gamma 2, accessory subunit" "001" "NM_007215.3" "" "NP_009146.2" "" "" "" "-98" "1496" "1458" "62493184" "62473902" "00001" "2013-11-07 13:58:20" "" "" "" "17" ## 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}}" "00048" "610131" "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)" "610131" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "POLG2" "00048" ## 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 = 27 "{{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}}" "0000000720" "0" "99" "17" "62474046" "62474046" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-10-22 20:35:27" "POLG2_000003" "g.62474046C>T" "" "{PMID:16685652:16685652}" "" "rs104894632" "subst" "0" "; clinVar; Ensembl;" "5.760" "" "" "" "" "MSCV_0000720" "" "0000000721" "0" "99" "17" "62481850" "62481850" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:07:21" "POLG2_000001" "g.62481850T>C" "" "{PMID:21555342:21555342}" "" "rs201936720" "subst" "0" "; clinVar;" "5.950" "" "" "" "" "MSCV_0000721" "" "0000000722" "0" "99" "17" "62489087" "62489087" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-08-24 02:50:41" "POLG2_000002" "g.62489087G>C" "" "{PMID:21555342:21555342}" "" "rs397514659" "subst" "0" "; clinVar; ensembl;" "5.440" "" "" "" "" "MSCV_0000722" "" "0000005202" "0" "99" "17" "62474046" "62474046" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:08:25" "POLG2_000003" "g.62474046C>T" "" "{PMID:16685652:16685652}" "" "rs104894632" "subst" "0" "; ensembl;" "5.760" "" "" "" "" "MSCV_0005202" "" "0000005203" "0" "99" "17" "62481850" "62481850" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:08:25" "POLG2_000001" "g.62481850T>C" "" "{PMID:21555342:21555342}" "" "rs201936720" "subst" "0" "; ensembl;" "5.950" "" "" "" "" "MSCV_0005203" "" "0000005250" "0" "99" "17" "62474046" "62474046" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2015-03-12 18:46:35" "POLG2_000003" "g.62474046C>T" "" "{PMID:16685652:16685652}" "" "rs104894632" "subst" "0" "; ensembl;" "5.760" "" "" "" "" "MSCV_0005250" "" "0000005251" "0" "99" "17" "62481850" "62481850" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2016-02-05 19:12:01" "POLG2_000001" "g.62481850T>C" "" "{PMID:21555342:21555342}" "" "rs201936720" "subst" "0" "; ensembl;" "5.950" "" "" "" "" "MSCV_0005251" "" "0000018416" "0" "77" "17" "62473981" "62473981" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-18 07:16:45" "POLG2_000011" "g.62473981C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018416" "" "0000018417" "0" "99" "17" "62474046" "62474046" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:58:12" "POLG2_000003" "g.62474046C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000720" "" "0000018418" "0" "33" "17" "62481850" "62481850" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:58:13" "POLG2_000001" "g.62481850T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000721" "" "0000018419" "0" "99" "17" "62489087" "62489087" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:58:14" "POLG2_000002" "g.62489087G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000722" "" "0000018420" "0" "55" "17" "62492591" "62492591" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:58:16" "POLG2_000009" "g.62492591G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018420" "" "0000018421" "0" "55" "17" "62492729" "62492729" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:58:17" "POLG2_000010" "g.62492729C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018421" "" "0000018422" "0" "33" "17" "62493147" "62493147" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:49:49" "POLG2_000004" "g.62493147C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018422" "" "0000018423" "0" "55" "17" "62493152" "62493152" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:49:51" "POLG2_000005" "g.62493152G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018423" "" "0000018424" "0" "11" "17" "62493167" "62493167" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:49:53" "POLG2_000006" "g.62493167A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018424" "" "0000018425" "0" "55" "17" "62493171" "62493171" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:49:54" "POLG2_000007" "g.62493171G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018425" "" "0000018426" "0" "55" "17" "62493173" "62493173" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:49:55" "POLG2_000008" "g.62493173C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018426" "" "0000025509" "0" "00" "17" "62473974" "62473975" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-29 04:25:15" "POLG2_000016" "g.62473974_62473975del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025510" "0" "00" "17" "62474051" "62474055" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:10:08" "POLG2_000017" "g.62474051_62474055del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025511" "0" "00" "17" "62476429" "62476429" "subst" "35" "0.0767692" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:10:13" "POLG2_000018" "g.62476429G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025512" "0" "00" "17" "62476451" "62476451" "subst" "35" "0.0119212" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:10:18" "POLG2_000019" "g.62476451C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025513" "0" "00" "17" "62479028" "62479029" "ins" "35" "0.267934" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:10:23" "POLG2_000020" "g.62479028_62479029insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025514" "0" "00" "17" "62479069" "62479069" "subst" "35" "0.000384438" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:16:42" "POLG2_000012" "g.62479069A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025515" "0" "00" "17" "62489027" "62489027" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:16:50" "POLG2_000013" "g.62489027C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025516" "0" "00" "17" "62489028" "62489028" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:16:55" "POLG2_000014" "g.62489028G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025517" "0" "00" "17" "62492582" "62492582" "subst" "35" "0.296017" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:17:02" "POLG2_000015" "g.62492582C>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 = 27 "{{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}}" "0000000720" "00000268" "99" "1352" "0" "1352" "0" "c.1352G>A" "8/8" "p.(Gly451Glu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000721" "00000268" "99" "1105" "0" "1105" "0" "c.1105A>G" "5/8" "p.(Arg369Gly)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000000722" "00000268" "99" "614" "0" "614" "0" "c.614C>G" "2/8" "p.(Pro205Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005202" "00000268" "00" "1352" "0" "1352" "0" "c.1352G>A" "8/8" "p.(Gly451Glu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0.01)" "0000005203" "00000268" "00" "1105" "0" "1105" "0" "c.1105A>G" "5/8" "p.(Arg369Gly)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000005250" "00000268" "00" "1352" "0" "1352" "0" "c.1352G>A" "8/8" "p.(Gly451Glu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0.01)" "0000005251" "00000268" "00" "1105" "0" "1105" "0" "c.1105A>G" "5/8" "p.(Arg369Gly)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000018416" "00000268" "00" "1417" "0" "1417" "0" "c.1417G>A" "" "p.(Asp473Asn)" "r.(?)" "" "" "" "" "" "-" "0000018417" "00000268" "00" "1352" "0" "1352" "0" "c.1352G>A" "" "p.(Gly451Glu)" "r.(?)" "" "" "" "" "" "-" "0000018418" "00000268" "00" "1105" "0" "1105" "0" "c.1105A>G" "" "p.(Arg369Gly)" "r.(?)" "" "" "" "" "" "-" "0000018419" "00000268" "00" "614" "0" "614" "0" "c.614C>G" "" "p.(Pro205Arg)" "r.(?)" "" "" "" "" "" "-" "0000018420" "00000268" "00" "496" "0" "496" "0" "c.496C>G" "" "p.(Gln166Glu)" "r.(?)" "" "" "" "" "" "-" "0000018421" "00000268" "00" "358" "0" "358" "0" "c.358G>A" "" "p.(Val120Met)" "r.(?)" "" "" "" "" "" "-" "0000018422" "00000268" "00" "-61" "0" "-61" "0" "c.-61G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018423" "00000268" "00" "-66" "0" "-66" "0" "c.-66C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018424" "00000268" "00" "-81" "0" "-81" "0" "c.-81T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018425" "00000268" "00" "-85" "0" "-85" "0" "c.-85C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018426" "00000268" "00" "-87" "0" "-87" "0" "c.-87G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025509" "00000268" "00" "1423" "0" "1424" "0" "c.1423_1424del" "" "p.(Leu475Aspfs*2)" "r.(?)" "" "" "" "" "" "-" "0000025510" "00000268" "00" "1343" "0" "1347" "0" "c.1343_1347del" "" "p.(Leu448*)" "r.(?)" "" "" "" "" "" "-" "0000025511" "00000268" "00" "1269" "0" "1269" "0" "c.1269C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025512" "00000268" "00" "1247" "0" "1247" "0" "c.1247G>C" "" "p.(Gly416Ala)" "r.(?)" "" "" "" "" "" "-" "0000025513" "00000268" "00" "1191" "7" "1191" "8" "c.1191+7_1191+8insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025514" "00000268" "00" "1158" "0" "1158" "0" "c.1158T>G" "" "p.(Asp386Glu)" "r.(?)" "" "" "" "" "" "-" "0000025515" "00000268" "00" "674" "0" "674" "0" "c.674G>A" "" "p.(Arg225Gln)" "r.(?)" "" "" "" "" "" "-" "0000025516" "00000268" "00" "673" "0" "673" "0" "c.673C>T" "" "p.(Arg225*)" "r.(?)" "" "" "" "" "" "-" "0000025517" "00000268" "00" "505" "0" "505" "0" "c.505G>A" "" "p.(Ala169Thr)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0