### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SDHAF1) # 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}}" "SDHAF1" "succinate dehydrogenase complex assembly factor 1" "19" "q13.12" "unknown" "NC_000019.9" "UD_132084502761" "" "" "" "1" "1" "33867" "644096" "612848" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com" "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 = 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}}" "00000294" "SDHAF1" "succinate dehydrogenase complex assembly factor 1" "001" "NM_001042631.2" "" "NP_001036096.1" "" "" "" "-87" "1044" "348" "36486090" "36487220" "00001" "2013-11-07 13:59:18" "" "" "" "19" ## 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}}" "00016" "252011" "Mitochondrial complex II deficiency, 252011 (3)" "252011" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SDHAF1" "00016" ## 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 = 10 "{{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}}" "0000000783" "0" "99" "19" "36486340" "36486340" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-01-13 05:40:33" "SDHAF1_000001" "g.36486340G>C" "" "{PMID:19465911:19465911}" "" "rs137853193" "subst" "0" "; clinVar; Ensembl;" "5.670" "" "" "" "" "MSCV_0000783" "" "0000000784" "0" "99" "19" "36486345" "36486345" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-01-13 05:39:28" "SDHAF1_000002" "g.36486345G>C" "" "{PMID:19465911:19465911}" "" "rs137853192" "subst" "0" "; clinVar; Ensembl;" "5.670" "" "" "" "" "MSCV_0000784" "" "0000018723" "0" "55" "19" "36486113" "36486113" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:58:42" "SDHAF1_000008" "g.36486113C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018723" "" "0000018724" "0" "99" "19" "36486340" "36486340" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:12" "SDHAF1_000001" "g.36486340G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000783" "" "0000018725" "0" "99" "19" "36486345" "36486345" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:14" "SDHAF1_000002" "g.36486345G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000784" "" "0000018726" "0" "33" "19" "36486509" "36486509" "subst" "35" "0.0340747" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:15" "SDHAF1_000003" "g.36486509C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018726" "" "0000018727" "0" "33" "19" "36486680" "36486680" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:16" "SDHAF1_000004" "g.36486680G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018727" "" "0000018728" "0" "55" "19" "36486853" "36486853" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:17" "SDHAF1_000005" "g.36486853G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018728" "" "0000018729" "0" "33" "19" "36487146" "36487146" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:19" "SDHAF1_000006" "g.36487146A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018729" "" "0000018730" "0" "55" "19" "36487206" "36487206" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:32:20" "SDHAF1_000007" "g.36487206A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018730" "" ## 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 = 10 "{{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}}" "0000000783" "00000294" "99" "164" "0" "164" "0" "c.164G>C" "1/1" "p.(Arg55Pro)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000784" "00000294" "99" "169" "0" "169" "0" "c.169G>C" "1/1" "p.(Gly57Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000018723" "00000294" "00" "-64" "0" "-64" "0" "c.-64C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018724" "00000294" "00" "164" "0" "164" "0" "c.164G>C" "" "p.(Arg55Pro)" "r.(?)" "" "" "" "" "" "-" "0000018725" "00000294" "00" "169" "0" "169" "0" "c.169G>C" "" "p.(Gly57Arg)" "r.(?)" "" "" "" "" "" "-" "0000018726" "00000294" "00" "333" "0" "333" "0" "c.333C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018727" "00000294" "00" "504" "0" "504" "0" "c.*156G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018728" "00000294" "00" "677" "0" "677" "0" "c.*329G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018729" "00000294" "00" "970" "0" "970" "0" "c.*622A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018730" "00000294" "00" "1030" "0" "1030" "0" "c.*682A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0