### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DLAT) # 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}}" "DLAT" "dihydrolipoamide S-acetyltransferase" "11" "q23.1" "unknown" "NC_000011.9" "UD_132085245027" "" "" "" "1" "1" "2896" "1737" "608770" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; 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 13:44:12" "" "" "" "" "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 = 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}}" "00000094" "DLAT" "dihydrolipoamide S-acetyltransferase" "001" "NM_001931.4" "" "NP_001922.2" "" "" "" "-659" "3687" "1944" "111895538" "111935002" "00001" "2013-11-07 13:47:27" "" "" "" "11" ## 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}}" "00475" "PDHDD" "PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD" "245348" "" "" "" "00001" "2014-04-10 17:30:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DLAT" "00475" ## 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 = 14 "{{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}}" "0000000461" "0" "99" "11" "111931812" "111931812" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 05:45:39" "DLAT_000001" "g.111931812C>A" "" "{PMID:16049940:16049940}" "" "rs119103240" "subst" "0" "; clinvar; ensembl;" "0.837" "" "" "" "" "MSCV_0000461" "" "0000016864" "0" "77" "11" "111896251" "111896251" "subst" "35" "0.00807941" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:57:58" "DLAT_000007" "g.111896251G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016864" "" "0000016865" "0" "33" "11" "111896340" "111896340" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:58:14" "DLAT_000008" "g.111896340G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016865" "" "0000016866" "0" "55" "11" "111896997" "111896997" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:47:12" "DLAT_000002" "g.111896997A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016866" "" "0000016867" "0" "00" "11" "111897029" "111897029" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:47:13" "DLAT_000003" "g.111897029del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016867" "" "0000016868" "0" "33" "11" "111899579" "111899579" "subst" "35" "0.00161588" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:47:14" "DLAT_000004" "g.111899579A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016868" "" "0000016869" "0" "77" "11" "111908057" "111908058" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-02-10 09:42:04" "DLAT_000005" "g.111908057_111908058del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016869" "" "0000016870" "0" "77" "11" "111908155" "111908155" "subst" "35" "0.00023084" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:47:17" "DLAT_000006" "g.111908155C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016870" "" "0000016871" "0" "99" "11" "111931812" "111931812" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:47:18" "DLAT_000001" "g.111931812C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000461" "" "0000024170" "0" "00" "11" "111899250" "111899251" "ins" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-29 01:20:29" "DLAT_000009" "g.111899250_111899251insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024171" "0" "00" "11" "111899269" "111899269" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:01:10" "DLAT_000010" "g.111899269G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024172" "0" "00" "11" "111899327" "111899327" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:01:18" "DLAT_000011" "g.111899327T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024173" "0" "00" "11" "111899581" "111899581" "subst" "35" "0.0000769468" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:01:25" "DLAT_000012" "g.111899581C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024174" "0" "00" "11" "111915866" "111915866" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:01:45" "DLAT_000013" "g.111915866C>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 = 14 "{{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}}" "0000000461" "00000094" "99" "1728" "0" "1728" "0" "c.1728C>A" "13/14" "p.(Phe576Leu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0.01)" "0000016864" "00000094" "00" "55" "0" "55" "0" "c.55G>C" "" "p.(Glu19Gln)" "r.(?)" "" "" "" "" "" "-" "0000016865" "00000094" "00" "144" "0" "144" "0" "c.144G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016866" "00000094" "00" "355" "0" "355" "0" "c.355A>G" "" "p.(Ile119Val)" "r.(?)" "" "" "" "" "" "-" "0000016867" "00000094" "00" "381" "6" "381" "6" "c.381+6del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016868" "00000094" "00" "570" "0" "570" "0" "c.570A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016869" "00000094" "00" "848" "0" "849" "0" "c.848_849del" "" "p.(Asp283Glyfs*22)" "r.(?)" "" "" "" "" "" "-" "0000016870" "00000094" "00" "946" "0" "946" "0" "c.946C>T" "" "p.(Pro316Ser)" "r.(?)" "" "" "" "" "" "-" "0000016871" "00000094" "00" "1728" "0" "1728" "0" "c.1728C>A" "" "p.(Phe576Leu)" "r.(?)" "" "" "" "" "" "-" "0000024170" "00000094" "00" "393" "0" "394" "0" "c.393_394insA" "" "p.(Ala133Serfs*6)" "r.(?)" "" "" "" "" "" "-" "0000024171" "00000094" "00" "412" "0" "412" "0" "c.412G>T" "" "p.(Glu138*)" "r.(?)" "" "" "" "" "" "-" "0000024172" "00000094" "00" "470" "0" "470" "0" "c.470T>G" "" "p.(Val157Gly)" "r.(?)" "" "" "" "" "" "-" "0000024173" "00000094" "00" "572" "0" "572" "0" "c.572C>T" "" "p.(Ala191Val)" "r.(?)" "" "" "" "" "" "-" "0000024174" "00000094" "00" "1202" "0" "1202" "0" "c.1202C>T" "" "p.(Pro401Leu)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0