### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IBA57) # 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}}" "IBA57" "IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)" "1" "q42.13" "unknown" "NC_000001.10" "UD_139311740887" "" "" "" "1" "1" "27302" "200205" "615316" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-17 18:28:39" "" "" "00000" "2014-04-17 18:28:39" "" ## 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}}" "00003220" "IBA57" "IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)" "001" "NM_001010867.2" "" "NP_001010867.1" "" "" "" "-89" "7815" "1071" "228353429" "228369958" "00000" "2014-04-17 18:28:39" "" "" "" "" ## 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}}" "00013" "MMDS3" "Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)" "615330" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IBA57" "00013" ## 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 = 26 "{{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}}" "0000000187" "0" "99" "1" "228363084" "228363084" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-06-16 09:42:27" "IBA57_000001" "g.228363084A>C" "" "" "" "" "subst" "0" "; clinvar;" "1.240" "" "" "" "" "MSCV_0000187" "" "0000015753" "0" "00" "1" "228353684" "228353684" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:49:58" "IBA57_000010" "g.228353684G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015753" "" "0000015754" "0" "55" "1" "228353723" "228353723" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-03 06:31:48" "IBA57_000011" "g.228353723T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015754" "" "0000015755" "0" "33" "1" "228353781" "228353781" "subst" "35" "0.00384263" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:50:02" "IBA57_000012" "g.228353781C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015755" "" "0000015756" "0" "99" "1" "228353830" "228353830" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 09:08:39" "IBA57_000007" "g.228353830C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015756" "" "0000015757" "0" "55" "1" "228353852" "228353852" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:41:53" "IBA57_000008" "g.228353852T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015757" "" "0000015758" "0" "11" "1" "228362513" "228362513" "subst" "35" "0.00709001" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:41:54" "IBA57_000009" "g.228362513C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015758" "" "0000015759" "0" "11" "1" "228362696" "228362696" "subst" "35" "0.00115456" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:31:19" "IBA57_000006" "g.228362696C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015759" "" "0000015760" "0" "33" "1" "228362944" "228362944" "subst" "35" "0.000230698" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:50:43" "IBA57_000002" "g.228362944C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015760" "" "0000015761" "0" "00" "1" "228362969" "228362969" "subst" "35" "0.000153846" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:50:44" "IBA57_000003" "g.228362969C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015761" "" "0000015762" "0" "99" "1" "228363084" "228363084" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 09:15:33" "IBA57_000001" "g.228363084A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000187" "" "0000015763" "0" "33" "1" "228363090" "228363090" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:50:47" "IBA57_000004" "g.228363090A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015763" "" "0000015764" "0" "33" "1" "228363104" "228363104" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-10 13:52:01" "IBA57_000005" "g.228363104C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015764" "" "0000023897" "0" "00" "1" "228353667" "228353667" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:51:55" "IBA57_000013" "g.228353667C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023898" "0" "00" "1" "228353732" "228353732" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:52:01" "IBA57_000014" "g.228353732G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023899" "0" "00" "1" "228353803" "228353803" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:52:08" "IBA57_000015" "g.228353803T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023900" "0" "00" "1" "228353833" "228353833" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:52:14" "IBA57_000016" "g.228353833A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023901" "0" "00" "1" "228353840" "228353840" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:52:21" "IBA57_000017" "g.228353840A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023902" "0" "00" "1" "228362405" "228362405" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-25 09:08:39" "IBA57_000018" "g.228362405C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023903" "0" "00" "1" "228362487" "228362487" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:52:34" "IBA57_000019" "g.228362487C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023904" "0" "00" "1" "228362637" "228362637" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-29 15:57:53" "IBA57_000020" "g.228362637T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023905" "0" "00" "1" "228362829" "228362829" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:52:48" "IBA57_000021" "g.228362829C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023906" "0" "00" "1" "228362840" "228362840" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:52:54" "IBA57_000022" "g.228362840C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023907" "0" "00" "1" "228362849" "228362849" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:53:01" "IBA57_000023" "g.228362849C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023908" "0" "00" "1" "228363083" "228363083" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:53:08" "IBA57_000024" "g.228363083C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023909" "0" "00" "1" "228363176" "228363176" "subst" "35" "0.000384497" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-09-16 12:11:26" "IBA57_000025" "g.228363176G>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 = 26 "{{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}}" "0000000187" "00003220" "99" "941" "0" "941" "0" "c.941A>C" "3/3" "p.(Gln314Pro)" "r.(?)" "possibly_damaging(0.53)" "" "missense_variant" "" "" "tolerated(0.27)" "0000015753" "00003220" "00" "167" "0" "167" "0" "c.167G>A" "" "p.(Arg56His)" "r.(?)" "" "" "" "" "" "-" "0000015754" "00003220" "00" "206" "0" "206" "0" "c.206T>C" "" "p.(Phe69Ser)" "r.(?)" "" "" "" "" "" "-" "0000015755" "00003220" "00" "264" "0" "264" "0" "c.264C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015756" "00003220" "00" "313" "0" "313" "0" "c.313C>T" "" "p.(Arg105Trp)" "r.(?)" "" "" "" "" "" "-" "0000015757" "00003220" "00" "335" "0" "335" "0" "c.335T>G" "" "p.(Leu112Trp)" "r.(?)" "" "" "" "" "" "-" "0000015758" "00003220" "00" "462" "0" "462" "0" "c.462C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015759" "00003220" "00" "645" "0" "645" "0" "c.645C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015760" "00003220" "00" "801" "0" "801" "0" "c.801C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015761" "00003220" "00" "826" "0" "826" "0" "c.826C>T" "" "p.(Arg276Cys)" "r.(?)" "" "" "" "" "" "-" "0000015762" "00003220" "00" "941" "0" "941" "0" "c.941A>C" "" "p.(Gln314Pro)" "r.(?)" "" "" "" "" "" "-" "0000015763" "00003220" "00" "947" "0" "947" "0" "c.947A>C" "" "p.(Asn316Thr)" "r.(?)" "" "" "" "" "" "-" "0000015764" "00003220" "00" "961" "0" "961" "0" "c.961C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023897" "00003220" "00" "150" "0" "150" "0" "c.150C>A" "" "p.(Cys50*)" "r.(?)" "" "" "" "" "" "-" "0000023898" "00003220" "00" "215" "0" "215" "0" "c.215G>C" "" "p.(Gly72Ala)" "r.(?)" "" "" "" "" "" "-" "0000023899" "00003220" "00" "286" "0" "286" "0" "c.286T>C" "" "p.(Tyr96His)" "r.(?)" "" "" "" "" "" "-" "0000023900" "00003220" "00" "316" "0" "316" "0" "c.316A>G" "" "p.(Thr106Ala)" "r.(?)" "" "" "" "" "" "-" "0000023901" "00003220" "00" "323" "0" "323" "0" "c.323A>C" "" "p.(Tyr108Ser)" "r.(?)" "" "" "" "" "" "-" "0000023902" "00003220" "00" "354" "0" "354" "0" "c.354C>A" "" "p.(His118Gln)" "r.(?)" "" "" "" "" "" "-" "0000023903" "00003220" "00" "436" "0" "436" "0" "c.436C>T" "" "p.(Arg146Trp)" "r.(?)" "" "" "" "" "" "-" "0000023904" "00003220" "00" "586" "0" "586" "0" "c.586T>G" "" "p.(Trp196Gly)" "r.(?)" "" "" "" "" "" "-" "0000023905" "00003220" "00" "686" "0" "686" "0" "c.686C>T" "" "p.(Pro229Leu)" "r.(?)" "" "" "" "" "" "-" "0000023906" "00003220" "00" "697" "0" "697" "0" "c.697C>T" "" "p.(Arg233*)" "r.(?)" "" "" "" "" "" "-" "0000023907" "00003220" "00" "706" "0" "706" "0" "c.706C>T" "" "p.(Pro236Ser)" "r.(?)" "" "" "" "" "" "-" "0000023908" "00003220" "00" "940" "0" "940" "0" "c.940C>T" "" "p.(Gln314*)" "r.(?)" "" "" "" "" "" "-" "0000023909" "00003220" "00" "1033" "0" "1033" "0" "c.1033G>A" "" "p.(Ala345Thr)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0