### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ECHS1) # 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}}" "ECHS1" "enoyl CoA hydratase, short chain, 1, mitochondrial" "10" "q26.2-q26.3" "unknown" "NC_000010.10" "UD_132319400718" "" "" "" "1" "1" "3151" "1892" "602292" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 15:22:12" "" "" "" "" "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}}" "00001861" "ECHS1" "enoyl CoA hydratase, short chain, 1, mitochondrial" "001" "NM_004092.3" "" "NP_004083.3" "" "" "" "-71" "1258" "873" "135186908" "135175987" "00001" "2013-11-15 15:22:50" "" "" "" "10" ## 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}}" "00529" "616277" "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)" "616277" "" "" "" "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}}" "ECHS1" "00529" ## 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 = 19 "{{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}}" "0000016356" "0" "99" "10" "135176387" "135176388" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:27" "ECHS1_000018" "g.135176387_135176388insTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016356" "" "0000016357" "0" "77" "10" "135176415" "135176415" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:30" "ECHS1_000001" "g.135176415G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016357" "" "0000016358" "0" "99" "10" "135176428" "135176428" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:32" "ECHS1_000002" "g.135176428T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016358" "" "0000016359" "0" "77" "10" "135179543" "135179543" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-01 17:45:28" "ECHS1_000003" "g.135179543C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016359" "" "0000016360" "0" "77" "10" "135180471" "135180471" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:35" "ECHS1_000004" "g.135180471G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016360" "" "0000016361" "0" "99" "10" "135180494" "135180494" "subst" "35" "0.000153822" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:36" "ECHS1_000005" "g.135180494G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016361" "" "0000016362" "0" "77" "10" "135182453" "135182453" "subst" "35" "0.0000768994" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:37" "ECHS1_000006" "g.135182453G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016362" "" "0000016363" "0" "99" "10" "135182465" "135182465" "subst" "35" "0.0000769112" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:38" "ECHS1_000007" "g.135182465T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016363" "" "0000016364" "0" "99" "10" "135182468" "135182468" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-21 08:37:39" "ECHS1_000008" "g.135182468G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016364" "" "0000016365" "0" "99" "10" "135183405" "135183405" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-06 11:47:19" "ECHS1_000009" "g.135183405C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016365" "" "0000016366" "0" "99" "10" "135183409" "135183409" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:42" "ECHS1_000010" "g.135183409G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016366" "" "0000016367" "0" "99" "10" "135183428" "135183428" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:43" "ECHS1_000011" "g.135183428C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016367" "" "0000016368" "0" "99" "10" "135184174" "135184174" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 09:58:32" "ECHS1_000012" "g.135184174T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016368" "" "0000016369" "0" "77" "10" "135184190" "135184190" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:45" "ECHS1_000013" "g.135184190G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016369" "" "0000016370" "0" "77" "10" "135186745" "135186745" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:46" "ECHS1_000014" "g.135186745C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016370" "" "0000016371" "0" "99" "10" "135186764" "135186764" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:48" "ECHS1_000015" "g.135186764C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016371" "" "0000016372" "0" "99" "10" "135186833" "135186833" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:49" "ECHS1_000016" "g.135186833G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016372" "" "0000016373" "0" "99" "10" "135186836" "135186836" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:50" "ECHS1_000017" "g.135186836A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016373" "" "0000024085" "0" "00" "10" "135176409" "135176409" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:27:17" "ECHS1_000019" "g.135176409A>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 = 19 "{{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}}" "0000016356" "00001861" "00" "857" "0" "858" "0" "c.857_858insAA" "" "p.(Asn286Lysfs*31)" "r.(?)" "" "" "" "" "" "-" "0000016357" "00001861" "00" "830" "0" "830" "0" "c.830C>T" "" "p.(Thr277Ile)" "r.(?)" "" "" "" "" "" "-" "0000016358" "00001861" "00" "817" "0" "817" "0" "c.817A>G" "" "p.(Lys273Glu)" "r.(?)" "" "" "" "" "" "-" "0000016359" "00001861" "00" "676" "0" "676" "0" "c.676G>A" "" "p.(Ala226Thr)" "r.(?)" "" "" "" "" "" "-" "0000016360" "00001861" "00" "541" "0" "541" "0" "c.541C>T" "" "p.(Arg181Cys)" "r.(?)" "" "" "" "" "" "-" "0000016361" "00001861" "00" "518" "0" "518" "0" "c.518C>T" "" "p.(Ala173Val)" "r.(?)" "" "" "" "" "" "-" "0000016362" "00001861" "00" "488" "0" "488" "0" "c.488C>T" "" "p.(Pro163Leu)" "r.(?)" "" "" "" "" "" "-" "0000016363" "00001861" "00" "476" "0" "476" "0" "c.476A>G" "" "p.(Gln159Arg)" "r.(?)" "" "" "" "" "" "-" "0000016364" "00001861" "00" "473" "0" "473" "0" "c.473C>A" "" "p.(Ala158Asp)" "r.(?)" "" "" "" "" "" "-" "0000016365" "00001861" "00" "414" "3" "414" "3" "c.414+3G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016366" "00001861" "00" "413" "0" "413" "0" "c.413C>T" "" "p.(Ala138Val)" "r.(?)" "" "" "" "" "" "-" "0000016367" "00001861" "00" "394" "0" "394" "0" "c.394G>A" "" "p.(Ala132Thr)" "r.(?)" "" "" "" "" "" "-" "0000016368" "00001861" "00" "176" "0" "176" "0" "c.176A>G" "" "p.(Asn59Ser)" "r.(?)" "" "" "" "" "" "-" "0000016369" "00001861" "00" "160" "0" "160" "0" "c.160C>T" "" "p.(Arg54Cys)" "r.(?)" "" "" "" "" "" "-" "0000016370" "00001861" "00" "88" "5" "88" "5" "c.88+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016371" "00001861" "00" "74" "0" "74" "0" "c.74G>C" "" "p.(Arg25Pro)" "r.(?)" "" "" "" "" "" "-" "0000016372" "00001861" "00" "5" "0" "5" "0" "c.5C>T" "" "p.(Ala2Val)" "r.(?)" "" "" "" "" "" "-" "0000016373" "00001861" "00" "2" "0" "2" "0" "c.2T>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000024085" "00001861" "00" "836" "0" "836" "0" "c.836T>C" "" "p.(Phe279Ser)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0