### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C12orf65) # 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}}" "C12orf65" "chromosome 12 open reading frame 65" "12" "q24.31" "unknown" "NC_000012.11" "UD_138385354891" "" "" "" "1" "1" "26784" "91574" "613541" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "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 = 5 "{{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}}" "00000062" "C12orf65" "transcript variant 1" "001" "NM_152269.4" "" "NP_689482.1" "" "" "" "-263" "1429" "501" "123717844" "123742506" "00001" "2013-11-07 13:46:00" "" "" "" "12" "00000063" "C12orf65" "transcript variant X2" "002" "XM_005253631.1" "" "XP_005253688.1" "" "" "" "-359" "1574" "501" "123717903" "123742651" "00001" "2013-11-07 13:46:00" "" "" "" "12" "00000064" "C12orf65" "transcript variant X1" "003" "XM_005253630.1" "" "XP_005253687.1" "" "" "" "-283" "1041" "501" "123718009" "123742118" "00001" "2013-11-07 13:46:00" "" "" "" "12" "00000065" "C12orf65" "transcript variant 3" "004" "NM_001194995.1" "" "NP_001181924.1" "" "" "" "-472" "1429" "501" "123718028" "123742506" "00001" "2013-11-07 13:46:00" "" "" "" "12" "00000066" "C12orf65" "transcript variant 2" "005" "NM_001143905.2" "" "NP_001137377.1" "" "" "" "-179" "1429" "501" "123718291" "123742506" "00001" "2013-11-07 13:46:00" "" "" "" "12" ## 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}}" "00493" "COXPD7" "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7" "613559" "" "" "" "00001" "2015-04-28 17:23:01" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "C12orf65" "00493" ## 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 = 31 "{{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}}" "0000000503" "0" "99" "12" "123738431" "123738431" "del" "35" "0.000079885" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 05:15:30" "C12orf65_000002" "g.123738431del" "" "" "" "" "del" "0" ";" "-5.510" "" "" "" "" "MSCV_0000503" "" "0000000504" "0" "55" "12" "123738469" "123738469" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 05:33:11" "C12orf65_000001" "g.123738469del" "" "" "" "" "del" "0" ";" "5.250" "" "" "" "" "MSCV_0000504" "" "0000017047" "0" "11" "12" "123738265" "123738265" "subst" "35" "0.0192219" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 05:32:42" "C12orf65_000004" "g.123738265G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017047" "" "0000017048" "0" "99" "12" "123738431" "123738431" "del" "35" "0.000079885" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-08 02:54:02" "C12orf65_000002" "g.123738431del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000503" "" "0000017049" "0" "77" "12" "123738469" "123738469" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 05:36:10" "C12orf65_000001" "g.123738469del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000504" "" "0000024687" "0" "00" "12" "123717901" "123717901" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:30:49" "C12orf65_000029" "g.123717901G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024688" "0" "00" "12" "123717979" "123717979" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:31:18" "C12orf65_000030" "g.123717979C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024689" "0" "00" "12" "123738255" "123738255" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:11:27" "C12orf65_000019" "g.123738255C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024690" "0" "00" "12" "123738277" "123738277" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:11:49" "C12orf65_000020" "g.123738277C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024691" "0" "00" "12" "123738311" "123738311" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:12:10" "C12orf65_000021" "g.123738311G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024692" "0" "00" "12" "123738316" "123738317" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:12:32" "C12orf65_000022" "g.123738316_123738317insATCC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024693" "0" "00" "12" "123738333" "123738333" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:12:58" "C12orf65_000023" "g.123738333G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024694" "0" "00" "12" "123738478" "123738478" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-04 12:08:47" "C12orf65_000024" "g.123738478A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024695" "0" "00" "12" "123738494" "123738494" "subst" "35" "0.0402122" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:13:46" "C12orf65_000025" "g.123738494C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024696" "0" "00" "12" "123741424" "123741424" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:14:11" "C12orf65_000026" "g.123741424T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024697" "0" "00" "12" "123741592" "123741592" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:14:37" "C12orf65_000027" "g.123741592del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024698" "0" "00" "12" "123741706" "123741706" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:15:04" "C12orf65_000028" "g.123741706C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024699" "0" "00" "12" "123741717" "123741717" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:47" "C12orf65_000005" "g.123741717A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024700" "0" "00" "12" "123741721" "123741721" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:06" "C12orf65_000006" "g.123741721G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024701" "0" "00" "12" "123741776" "123741776" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:26" "C12orf65_000007" "g.123741776T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024702" "0" "00" "12" "123741789" "123741789" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-26 04:21:35" "C12orf65_000008" "g.123741789C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024703" "0" "00" "12" "123741932" "123741932" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:04" "C12orf65_000009" "g.123741932G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024704" "0" "00" "12" "123742032" "123742032" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:24" "C12orf65_000010" "g.123742032A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024705" "0" "00" "12" "123742046" "123742046" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:44" "C12orf65_000011" "g.123742046C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024706" "0" "00" "12" "123742061" "123742061" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:42:04" "C12orf65_000012" "g.123742061G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024707" "0" "00" "12" "123742093" "123742093" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:21" "C12orf65_000013" "g.123742093T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024708" "0" "00" "12" "123742252" "123742252" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:51" "C12orf65_000014" "g.123742252A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024709" "0" "00" "12" "123742271" "123742274" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:27" "C12orf65_000015" "g.123742271_123742274del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024710" "0" "00" "12" "123742280" "123742283" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-26 04:21:35" "C12orf65_000016" "g.123742280_123742283del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024711" "0" "00" "12" "123742287" "123742289" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:17" "C12orf65_000017" "g.123742287_123742289del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024712" "0" "00" "12" "123742325" "123742325" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:36" "C12orf65_000018" "g.123742325G>A" "" "" "" "" "" "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 = 155 "{{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}}" "0000000503" "00000062" "55" "210" "0" "210" "0" "c.210del" "" "p.(Gly72Alafs*13)" "r.(?)" "" "" "" "" "" "-" "0000000503" "00000063" "55" "210" "0" "210" "0" "c.210del" "" "p.(Gly72Alafs*13)" "r.(?)" "" "" "" "" "" "-" "0000000503" "00000064" "55" "210" "0" "210" "0" "c.210del" "" "p.(Gly72Alafs*13)" "r.(?)" "" "" "" "" "" "-" "0000000503" "00000065" "55" "210" "0" "210" "0" "c.210del" "" "p.(Gly72Alafs*13)" "r.(?)" "" "" "" "" "" "-" "0000000503" "00000066" "55" "210" "0" "210" "0" "c.210del" "" "p.(Gly72Alafs*13)" "r.(?)" "" "" "" "" "" "-" "0000000504" "00000062" "55" "248" "0" "248" "0" "c.248del" "" "p.(Val83Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000000504" "00000063" "55" "248" "0" "248" "0" "c.248del" "" "p.(Val83Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000000504" "00000064" "55" "248" "0" "248" "0" "c.248del" "" "p.(Val83Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000000504" "00000065" "55" "248" "0" "248" "0" "c.248del" "" "p.(Val83Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000000504" "00000066" "55" "248" "0" "248" "0" "c.248del" "" "p.(Val83Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000017047" "00000062" "00" "44" "0" "44" "0" "c.44G>A" "" "p.(Arg15Gln)" "r.(?)" "" "" "" "" "" "-" "0000017047" "00000063" "00" "44" "0" "44" "0" "c.44G>A" "" "p.(Arg15Gln)" "r.(?)" "" "" "" "" "" "-" "0000017047" "00000064" "00" "44" "0" "44" "0" "c.44G>A" "" "p.(Arg15Gln)" "r.(?)" "" "" "" "" "" "-" "0000017047" "00000065" "00" "44" "0" "44" "0" "c.44G>A" "" "p.(Arg15Gln)" "r.(?)" "" "" "" "" "" "-" "0000017047" "00000066" "00" "44" "0" "44" "0" "c.44G>A" "" "p.(Arg15Gln)" "r.(?)" "" "" "" "" "" "-" "0000017048" "00000062" "00" "210" "0" "210" "0" "c.210del" "" "p.(Gly72Alafs*13)" "r.(?)" "" "" "" "" "" "-" "0000017048" "00000063" "00" "210" "0" "210" "0" "c.210del" "" "p.(Gly72Alafs*13)" "r.(?)" "" "" "" "" "" "-" "0000017048" "00000064" "00" "210" "0" "210" "0" "c.210del" "" "p.(Gly72Alafs*13)" "r.(?)" "" "" "" "" "" "-" "0000017048" "00000065" "00" "210" "0" "210" "0" "c.210del" "" "p.(Gly72Alafs*13)" "r.(?)" "" "" "" "" "" "-" "0000017048" "00000066" "00" "210" "0" "210" "0" "c.210del" "" "p.(Gly72Alafs*13)" "r.(?)" "" "" "" "" "" "-" "0000017049" "00000062" "00" "248" "0" "248" "0" "c.248del" "" "p.(Val83Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000017049" "00000063" "00" "248" "0" "248" "0" "c.248del" "" "p.(Val83Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000017049" "00000064" "00" "248" "0" "248" "0" "c.248del" "" "p.(Val83Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000017049" "00000065" "00" "248" "0" "248" "0" "c.248del" "" "p.(Val83Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000017049" "00000066" "00" "248" "0" "248" "0" "c.248del" "" "p.(Val83Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000024687" "00000062" "00" "-206" "0" "-206" "0" "c.-206G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024687" "00000063" "00" "-359" "-2" "-359" "-2" "c.-361G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024687" "00000064" "00" "-283" "-108" "-283" "-108" "c.-391G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024687" "00000065" "00" "-472" "-127" "-472" "-127" "c.-599G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024687" "00000066" "00" "-179" "-390" "-179" "-390" "c.-569G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024688" "00000062" "00" "-128" "0" "-128" "0" "c.-128C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024688" "00000063" "00" "-283" "0" "-283" "0" "c.-283C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024688" "00000064" "00" "-283" "-30" "-283" "-30" "c.-313C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024688" "00000065" "00" "-472" "-49" "-472" "-49" "c.-521C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024688" "00000066" "00" "-179" "-312" "-179" "-312" "c.-491C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024689" "00000062" "00" "34" "0" "34" "0" "c.34C>T" "" "p.(Pro12Ser)" "r.(?)" "" "" "" "" "" "-" "0000024689" "00000063" "00" "34" "0" "34" "0" "c.34C>T" "" "p.(Pro12Ser)" "r.(?)" "" "" "" "" "" "-" "0000024689" "00000064" "00" "34" "0" "34" "0" "c.34C>T" "" "p.(Pro12Ser)" "r.(?)" "" "" "" "" "" "-" "0000024689" "00000065" "00" "34" "0" "34" "0" "c.34C>T" "" "p.(Pro12Ser)" "r.(?)" "" "" "" "" "" "-" "0000024689" "00000066" "00" "34" "0" "34" "0" "c.34C>T" "" "p.(Pro12Ser)" "r.(?)" "" "" "" "" "" "-" "0000024690" "00000062" "00" "56" "0" "56" "0" "c.56C>T" "" "p.(Ala19Val)" "r.(?)" "" "" "" "" "" "-" "0000024690" "00000063" "00" "56" "0" "56" "0" "c.56C>T" "" "p.(Ala19Val)" "r.(?)" "" "" "" "" "" "-" "0000024690" "00000064" "00" "56" "0" "56" "0" "c.56C>T" "" "p.(Ala19Val)" "r.(?)" "" "" "" "" "" "-" "0000024690" "00000065" "00" "56" "0" "56" "0" "c.56C>T" "" "p.(Ala19Val)" "r.(?)" "" "" "" "" "" "-" "0000024690" "00000066" "00" "56" "0" "56" "0" "c.56C>T" "" "p.(Ala19Val)" "r.(?)" 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"0000024712" "00000066" "00" "1248" "0" "1248" "0" "c.*747G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0