### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFAF5) # 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}}" "NDUFAF5" "NADH dehydrogenase (ubiquinone) complex I, assembly factor 5" "20" "p12.1" "unknown" "NC_000020.10" "UD_132119161183" "" "" "" "1" "1" "15899" "79133" "612360" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com" "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-13 15:09:30" "" "" "" "" "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}}" "00003328" "NDUFAF5" "transcript variant 2" "001" "NM_001039375.2" "" "NP_001034464.1" "" "" "" "-43" "2165" "954" "13765672" "13799067" "00000" "2014-09-15 16:24:22" "" "" "" "" ## 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" "" "" "" "00592" "618238" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16; MC1DN16" "618238" "" "" "" "00000" "2019-03-01 12:40:01" "00001" "2019-06-17 12:38:57" "Added by batch from OMIM 2019-01-20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NDUFAF5" "00011" "NDUFAF5" "00592" ## 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 = 7 "{{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}}" "0000000890" "0" "99" "20" "13775585" "13775585" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:03:59" "NDUFAF5_000001" "g.13775585A>C" "" "{PMID:18940309:18940309};{PMID:19542079:19542079}" "" "rs267606689" "subst" "0" "; clinVar; Ensembl;" "4.840" "" "" "" "" "MSCV_0000890" "" "0000000891" "0" "99" "20" "13782298" "13782298" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:03:59" "NDUFAF5_000002" "g.13782298T>C" "" "{PMID:18940309:18940309}" "" "rs118203929" "subst" "0" "; clinVar; Ensembl;" "5.470" "" "" "" "" "MSCV_0000891" "" "0000019712" "0" "99" "20" "13775585" "13775585" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:04:20" "NDUFAF5_000001" "g.13775585A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000890" "" "0000019713" "0" "99" "20" "13782298" "13782298" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:45:23" "NDUFAF5_000002" "g.13782298T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000891" "" "0000019714" "0" "77" "20" "13789519" "13789519" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:53:36" "NDUFAF5_000003" "g.13789519G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019714" "" "0000025922" "0" "00" "20" "13765892" "13765892" "subst" "35" "0.000230698" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:57:32" "NDUFAF5_000005" "g.13765892G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025923" "0" "00" "20" "13797166" "13797166" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:26:32" "NDUFAF5_000004" "g.13797166T>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 = 7 "{{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}}" "0000000890" "00003328" "99" "395" "1712" "395" "1712" "c.395+1712A>C" "" "p.?" "r.?" "" "" "" "" "" "-" "0000000891" "00003328" "99" "602" "0" "602" "0" "c.602T>C" "6/10" "p.?" "r.?" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000019712" "00003328" "00" "395" "1712" "395" "1712" "c.395+1712A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019713" "00003328" "00" "602" "0" "602" "0" "c.602T>C" "" "p.(Leu201Pro)" "r.(?)" "" "" "" "" "" "-" "0000019714" "00003328" "00" "665" "0" "665" "0" "c.665G>T" "" "p.(Gly222Val)" "r.(?)" "" "" "" "" "" "-" "0000025922" "00003328" "00" "178" "0" "178" "0" "c.178G>A" "" "p.(Ala60Thr)" "r.(?)" "" "" "" "" "" "-" "0000025923" "00003328" "00" "752" "0" "752" "0" "c.752T>G" "" "p.(Met251Arg)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0