### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PNPT1) # 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}}" "PNPT1" "polyribonucleotide nucleotidyltransferase 1" "2" "p15" "unknown" "NC_000002.11" "UD_138312633697" "" "" "" "1" "1" "23166" "87178" "610316" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.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 = 2 "{{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}}" "00000264" "PNPT1" "polyribonucleotide nucleotidyltransferase 1" "001" "NM_033109.4" "" "NP_149100.2" "" "" "" "-87" "4526" "2352" "55921045" "55861198" "00001" "2013-11-07 13:58:10" "" "" "" "2" "00000265" "PNPT1" "transcript variant X1" "002" "XM_005264629.1" "" "XP_005264686.1" "" "" "" "-257" "4286" "2112" "55920979" "55861198" "00001" "2013-11-07 13:58:10" "" "" "" "2" ## 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}}" "00512" "614932" "Combined oxidative phosphorylation deficiency 13, 614932 (3)" "614932" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PNPT1" "00512" ## 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 = 15 "{{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}}" "0000000831" "0" "99" "2" "55894142" "55894142" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 02:08:11" "PNPT1_000001" "g.55894142T>C" "" "{PMID:23084291:23084291}" "" "rs397514598" "subst" "0" "; clinvar;" "5.560" "" "" "" "" "MSCV_0000831" "" "0000019172" "0" "77" "2" "55873563" "55873563" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-08 04:38:07" "PNPT1_000004" "g.55873563del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019172" "" "0000019173" "0" "77" "2" "55874492" "55874492" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-08 05:53:43" "PNPT1_000005" "g.55874492G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019173" "" "0000019174" "0" "99" "2" "55874556" "55874556" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-08 06:31:38" "PNPT1_000006" "g.55874556C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019174" "" "0000019175" "0" "77" "2" "55874559" "55874559" "subst" "35" "0.00115331" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-08 05:15:49" "PNPT1_000007" "g.55874559C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019175" "" "0000019176" "0" "99" "2" "55894142" "55894142" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-08 07:47:50" "PNPT1_000001" "g.55894142T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000831" "" "0000019177" "0" "99" "2" "55900134" "55900134" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-08 07:09:29" "PNPT1_000003" "g.55900134G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019177" "" "0000025754" "0" "00" "2" "55867773" "55867773" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:01:01" "PNPT1_000012" "g.55867773C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025755" "0" "00" "2" "55874565" "55874565" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:01:39" "PNPT1_000013" "g.55874565C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025756" "0" "00" "2" "55882035" "55882035" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-10 03:03:15" "PNPT1_000014" "g.55882035C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025757" "0" "00" "2" "55883346" "55883346" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:02:02" "PNPT1_000015" "g.55883346G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025758" "0" "00" "2" "55900206" "55900206" "subst" "35" "0.0018453" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:01:15" "PNPT1_000008" "g.55900206C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025759" "0" "00" "2" "55910966" "55910966" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:01:41" "PNPT1_000009" "g.55910966C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025760" "0" "00" "2" "55910970" "55910970" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:02:09" "PNPT1_000010" "g.55910970C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025761" "0" "00" "2" "55914794" "55914794" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:02:43" "PNPT1_000011" "g.55914794A>G" "" "" "" "" "" "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 = 30 "{{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}}" "0000000831" "00000264" "99" "1160" "0" "1160" "0" "c.1160A>G" "13/28" "p.(Gln387Arg)" "r.(?)" "probably_damaging(0.987)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000831" "00000265" "99" "920" "0" "920" "0" "c.920A>G" "13/28" "p.(Gln307Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000019172" "00000264" "00" "1661" "0" "1661" "0" "c.1661del" "" "p.(Ile554Lysfs*15)" "r.(?)" "" "" "" "" "" "-" "0000019172" "00000265" "00" "1421" "0" "1421" "0" "c.1421del" "" "p.(Ile474Lysfs*15)" "r.(?)" "" "" "" "" "" "-" "0000019173" "00000264" "00" "1592" "0" "1592" "0" "c.1592C>G" "" "p.(Thr531Arg)" "r.(?)" "" "" "" "" "" "-" "0000019173" "00000265" "00" "1352" "0" "1352" "0" "c.1352C>G" "" "p.(Thr451Arg)" "r.(?)" "" "" "" "" "" "-" "0000019174" "00000264" "00" "1528" "0" "1528" "0" "c.1528G>C" "" "p.(Ala510Pro)" "r.(?)" "" "" "" "" "" "-" "0000019174" "00000265" "00" "1288" "0" "1288" "0" "c.1288G>C" "" "p.(Ala430Pro)" "r.(?)" "" "" "" "" "" "-" "0000019175" "00000264" "00" "1525" "0" "1525" "0" "c.1525G>A" "" "p.(Val509Ile)" "r.(?)" "" "" "" "" "" "-" "0000019175" "00000265" "00" "1285" "0" "1285" "0" "c.1285G>A" "" "p.(Val429Ile)" "r.(?)" "" "" "" "" "" "-" "0000019176" "00000264" "00" "1160" "0" "1160" "0" "c.1160A>G" "" "p.(Gln387Arg)" "r.(?)" "" "" "" "" "" "-" "0000019176" "00000265" "00" "920" "0" "920" "0" "c.920A>G" "" "p.(Gln307Arg)" "r.(?)" "" "" "" "" "" "-" "0000019177" "00000264" "00" "760" "0" "760" "0" "c.760C>A" "" "p.(Gln254Lys)" "r.(?)" "" "" "" "" "" "-" "0000019177" "00000265" "00" "520" "0" "520" "0" "c.520C>A" "" "p.(Gln174Lys)" "r.(?)" "" "" "" "" "" "-" "0000025754" "00000264" "00" "2137" "0" "2137" "0" "c.2137G>T" "" "p.(Asp713Tyr)" "r.(?)" "" "" "" "" "" "-" "0000025754" "00000265" "00" "1897" "0" "1897" "0" "c.1897G>T" "" "p.(Asp633Tyr)" "r.(?)" "" "" "" "" "" "-" "0000025755" "00000264" "00" "1519" "0" "1519" "0" "c.1519G>T" "" "p.(Ala507Ser)" "r.(?)" "" "" "" "" "" "-" "0000025755" "00000265" "00" "1279" "0" "1279" "0" "c.1279G>T" "" "p.(Ala427Ser)" "r.(?)" "" "" "" "" "" "-" "0000025756" "00000264" "00" "1495" "0" "1495" "0" "c.1495G>C" "" "p.(Gly499Arg)" "r.(?)" "" "" "" "" "" "-" "0000025756" "00000265" "00" "1255" "0" "1255" "0" "c.1255G>C" "" "p.(Gly419Arg)" "r.(?)" "" "" "" "" "" "-" "0000025757" "00000264" "00" "1361" "0" "1361" "0" "c.1361C>G" "" "p.(Ala454Gly)" "r.(?)" "" "" "" "" "" "-" "0000025757" "00000265" "00" "1121" "0" "1121" "0" "c.1121C>G" "" "p.(Ala374Gly)" "r.(?)" "" "" "" "" "" "-" "0000025758" "00000264" "00" "688" "0" "688" "0" "c.688G>C" "" "p.(Glu230Gln)" "r.(?)" "" "" "" "" "" "-" "0000025758" "00000265" "00" "448" "0" "448" "0" "c.448G>C" "" "p.(Glu150Gln)" "r.(?)" "" "" "" "" "" "-" "0000025759" "00000264" "00" "407" "0" "407" "0" "c.407G>A" "" "p.(Arg136His)" "r.(?)" "" "" "" "" "" "-" "0000025759" "00000265" "00" "167" "0" "167" "0" "c.167G>A" "" "p.(Arg56His)" "r.(?)" "" "" "" "" "" "-" "0000025760" "00000264" "00" "404" "-1" "404" "-1" "c.404-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025760" "00000265" "00" "164" "-1" "164" "-1" "c.164-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025761" "00000264" "00" "208" "0" "208" "0" "c.208T>C" "" "p.(Ser70Pro)" "r.(?)" "" "" "" "" "" "-" "0000025761" "00000265" "00" "-29" "0" "-29" "0" "c.-29T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0