### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM126B) # 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}}" "TMEM126B" "transmembrane protein 126B" "11" "q14.1" "unknown" "NC_000011.9" "UD_136094684382" "" "" "" "1" "1" "30883" "55863" "" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "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}}" "00001216" "TMEM126B" "transcript variant 2" "001" "NM_001193537.2" "" "NP_001180466.1" "" "" "" "-226" "943" "633" "85339617" "85347583" "00001" "2013-11-12 21:58:28" "" "" "" "11" "00001217" "TMEM126B" "transcript variant 5" "002" "NM_001256546.1" "" "NP_001243475.1" "" "" "" "-197" "913" "603" "85339617" "85347583" "00001" "2013-11-12 21:58:28" "" "" "" "11" "00001218" "TMEM126B" "transcript variant 3" "003" "NM_001193538.2" "" "NP_001180467.1" "" "" "" "-297" "913" "603" "85339617" "85347583" "00001" "2013-11-12 21:58:28" "" "" "" "11" "00001219" "TMEM126B" "transcript variant 1" "004" "NM_018480.4" "" "NP_060950.3" "" "" "" "-35" "1003" "693" "85339617" "85347583" "00001" "2013-11-12 21:58:28" "" "" "" "11" "00001220" "TMEM126B" "transcript variant 4" "005" "NM_001256547.1" "" "NP_001243476.1" "" "" "" "-51" "865" "555" "85339617" "85347583" "00001" "2013-11-12 21:58:28" "" "" "" "11" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00011" "252010" "Mitochondrial complex I deficiency, 252010 (3)" "252010" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00604" "618250" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29; MC1DN29" "618250" "" "" "" "00000" "2019-03-01 12:40:01" "" "" "Added by batch from OMIM 2019-01-20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TMEM126B" "00011" "TMEM126B" "00604" ## 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}}" "0000016782" "0" "99" "11" "85345134" "85345134" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-02-10 11:41:15" "TMEM126B_000004" "g.85345134C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016782" "" "0000016783" "0" "99" "11" "85345323" "85345323" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-02-09 04:53:45" "TMEM126B_000001" "g.85345323G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016783" "" "0000016784" "0" "99" "11" "85346713" "85346713" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-02-10 11:26:08" "TMEM126B_000002" "g.85346713del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016784" "" "0000016785" "0" "99" "11" "85347215" "85347215" "subst" "35" "0.00123039" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-05-01 13:33:37" "TMEM126B_000003" "g.85347215G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016785" "" ## 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 = 20 "{{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}}" "0000016782" "00001216" "00" "148" "0" "148" "0" "c.148C>T" "" "p.(Gln50*)" "r.(?)" "" "" "" "" "" "-" "0000016782" "00001217" "00" "118" "0" "118" "0" "c.118C>T" "" "p.(Gln40*)" "r.(?)" "" "" "" "" "" "-" "0000016782" "00001218" "00" "118" "0" "118" "0" "c.118C>T" "" "p.(Gln40*)" "r.(?)" "" "" "" "" "" "-" "0000016782" "00001219" "00" "208" "0" "208" "0" "c.208C>T" "" "p.(Gln70*)" "r.(?)" "" "" "" "" "" "-" "0000016782" "00001220" "00" "70" "0" "70" "0" "c.70C>T" "" "p.(Gln24*)" "r.(?)" "" "" "" "" "" "-" "0000016783" "00001216" "00" "337" "0" "337" "0" "c.337G>A" "" "p.(Asp113Asn)" "r.(?)" "" "" "" "" "" "-" "0000016783" "00001217" "00" "307" "0" "307" "0" "c.307G>A" "" "p.(Asp103Asn)" "r.(?)" "" "" "" "" "" "-" "0000016783" "00001218" "00" "307" "0" "307" "0" "c.307G>A" "" "p.(Asp103Asn)" "r.(?)" "" "" "" "" "" "-" "0000016783" "00001219" "00" "397" "0" "397" "0" "c.397G>A" "" "p.(Asp133Asn)" "r.(?)" "" "" "" "" "" "-" "0000016783" "00001220" "00" "259" "0" "259" "0" "c.259G>A" "" "p.(Asp87Asn)" "r.(?)" "" "" "" "" "" "-" "0000016784" "00001216" "00" "340" "0" "340" "0" "c.340del" "" "p.(Asn114Ilefs*2)" "r.(?)" "" "" "" "" "" "-" "0000016784" "00001217" "00" "310" "0" "310" "0" "c.310del" "" "p.(Asn104Ilefs*2)" "r.(?)" "" "" "" "" "" "-" "0000016784" "00001218" "00" "310" "0" "310" "0" "c.310del" "" "p.(Asn104Ilefs*2)" "r.(?)" "" "" "" "" "" "-" "0000016784" "00001219" "00" "400" "0" "400" "0" "c.400del" "" "p.(Asn134Ilefs*2)" "r.(?)" "" "" "" "" "" "-" "0000016784" "00001220" "00" "262" "0" "262" "0" "c.262del" "" "p.(Asn88Ilefs*2)" "r.(?)" "" "" "" "" "" "-" "0000016785" "00001216" "00" "575" "0" "575" "0" "c.575G>T" "" "p.(Gly192Val)" "r.(?)" "" "" "" "" "" "-" "0000016785" "00001217" "00" "545" "0" "545" "0" "c.545G>T" "" "p.(Gly182Val)" "r.(?)" "" "" "" "" "" "-" "0000016785" "00001218" "00" "545" "0" "545" "0" "c.545G>T" "" "p.(Gly182Val)" "r.(?)" "" "" "" "" "" "-" "0000016785" "00001219" "00" "635" "0" "635" "0" "c.635G>T" "" "p.(Gly212Val)" "r.(?)" "" "" "" "" "" "-" "0000016785" "00001220" "00" "497" "0" "497" "0" "c.497G>T" "" "p.(Gly166Val)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0