### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFAF2) # 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}}" "NDUFAF2" "NADH dehydrogenase (ubiquinone) complex I, assembly factor 2" "5" "q12.1" "unknown" "NC_000005.9" "UD_132085389660" "" "" "" "1" "1" "28086" "91942" "609653" "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 " "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}}" "00000195" "NDUFAF2" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2" "001" "NM_174889.4" "" "NP_777549.1" "" "" "" "-127" "592" "510" "60240956" "60448864" "00001" "2013-11-07 13:56:01" "" "" "" "5" ## 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" "" "" "" "00574" "MC1DN10 618233" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10; MC1DN10" "618233" "" "Mitochondrial complex I deficiency nuclear type 10 (MC1DN10) is caused by homozygous mutation in the NDUFAF2 gene (609653) on chromosome 5q12.\r\n\r\nFor a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010." "" "00001" "2019-03-01 12:33:07" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NDUFAF2" "00011" "NDUFAF2" "00574" ## 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 = 21 "{{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}}" "0000001021" "0" "99" "5" "60368963" "60368963" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:45:20" "NDUFAF2_000001" "g.60368963C>T" "" "{PMID:16200211:16200211}" "" "rs137852863" "subst" "0" "; clinVar; Ensembl;" "2.410" "" "" "" "" "MSCV_0001021" "" "0000021319" "0" "55" "5" "60240973" "60240973" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:29:02" "NDUFAF2_000017" "g.60240973A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021319" "" "0000021320" "0" "11" "5" "60240986" "60240986" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:29:20" "NDUFAF2_000018" "g.60240986A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021320" "" "0000021321" "0" "33" "5" "60240992" "60240992" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:29:22" "NDUFAF2_000019" "g.60240992C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021321" "" "0000021322" "0" "55" "5" "60241017" "60241017" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:53" "NDUFAF2_000007" "g.60241017G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021322" "" "0000021323" "0" "55" "5" "60241020" "60241020" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:54" "NDUFAF2_000008" "g.60241020G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021323" "" "0000021324" "0" "00" "5" "60241059" "60241060" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:56" "NDUFAF2_000009" "g.60241059_60241060insGC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021324" "" "0000021325" "0" "99" "5" "60241083" "60241083" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:57" "NDUFAF2_000010" "g.60241083A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021325" "" "0000021326" "0" "99" "5" "60241091" "60241091" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:58" "NDUFAF2_000011" "g.60241091G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021326" "" "0000021327" "0" "55" "5" "60241100" "60241100" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:59" "NDUFAF2_000012" "g.60241100T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021327" "" "0000021328" "0" "11" "5" "60241142" "60241142" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:56:00" "NDUFAF2_000013" "g.60241142G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021328" "" "0000021329" "0" "55" "5" "60241180" "60241180" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:56:02" "NDUFAF2_000014" "g.60241180A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021329" "" "0000021330" "0" "99" "5" "60241185" "60241185" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:56:03" "NDUFAF2_000015" "g.60241185del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021330" "" "0000021331" "0" "99" "5" "60241196" "60241196" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:56:04" "NDUFAF2_000016" "g.60241196C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021331" "" "0000021332" "0" "55" "5" "60368938" "60368938" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:56:41" "NDUFAF2_000020" "g.60368938C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021332" "" "0000021333" "0" "99" "5" "60368963" "60368963" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:02" "NDUFAF2_000001" "g.60368963C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001021" "" "0000021334" "0" "55" "5" "60369020" "60369020" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:04" "NDUFAF2_000002" "g.60369020G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021334" "" "0000021335" "0" "99" "5" "60394822" "60394822" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:06" "NDUFAF2_000003" "g.60394822G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021335" "" "0000021336" "0" "55" "5" "60448686" "60448686" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:07" "NDUFAF2_000004" "g.60448686T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021336" "" "0000021337" "0" "55" "5" "60448694" "60448694" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:30" "NDUFAF2_000005" "g.60448694A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021337" "" "0000021338" "0" "77" "5" "60448734" "60448734" "subst" "35" "0.0189231" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:32" "NDUFAF2_000006" "g.60448734T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021338" "" ## 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 = 21 "{{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}}" "0000001021" "00000195" "99" "139" "0" "139" "0" "c.139C>T" "2/4" "p.?" "r.?" "-" "" "stop_gained" "" "" "-" "0000021319" "00000195" "00" "-110" "0" "-110" "0" "c.-110A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021320" "00000195" "00" "-97" "0" "-97" "0" "c.-97A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021321" "00000195" "00" "-91" "0" "-91" "0" "c.-91C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021322" "00000195" "00" "-66" "0" "-66" "0" "c.-66G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021323" "00000195" "00" "-63" "0" "-63" "0" "c.-63G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021324" "00000195" "00" "-24" "0" "-23" "0" "c.-24_-23insGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021325" "00000195" "00" "1" "0" "1" "0" "c.1A>T" "" "p.?" "r.?" "" "" "" "" "" "-" "0000021326" "00000195" "00" "9" "0" "9" "0" "c.9G>A" "" "p.(Trp3*)" "r.(?)" "" "" "" "" "" "-" "0000021327" "00000195" "00" "18" "0" "18" "0" "c.18T>G" "" "p.(Asp6Glu)" "r.(?)" "" "" "" "" "" "-" "0000021328" "00000195" "00" "60" "0" "60" "0" "c.60G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021329" "00000195" "00" "98" "0" "98" "0" "c.98A>G" "" "p.(Tyr33Cys)" "r.(?)" "" "" "" "" "" "-" "0000021330" "00000195" "00" "103" "0" "103" "0" "c.103del" "" "p.(Ile35Serfs*18)" "r.(?)" "" "" "" "" "" "-" "0000021331" "00000195" "00" "114" "0" "114" "0" "c.114C>G" "" "p.(Tyr38*)" "r.(?)" "" "" "" "" "" "-" "0000021332" "00000195" "00" "128" "-14" "128" "-14" "c.128-14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021333" "00000195" "00" "139" "0" "139" "0" "c.139C>T" "" "p.(Arg47*)" "r.(?)" "" "" "" "" "" "-" "0000021334" "00000195" "00" "196" "0" "196" "0" "c.196G>C" "" "p.(Asp66His)" "r.(?)" "" "" "" "" "" "-" "0000021335" "00000195" "00" "221" "0" "221" "0" "c.221G>A" "" "p.(Trp74*)" "r.(?)" "" "" "" "" "" "-" "0000021336" "00000195" "00" "414" "0" "414" "0" "c.414T>A" "" "p.(Phe138Leu)" "r.(?)" "" "" "" "" "" "-" "0000021337" "00000195" "00" "422" "0" "422" "0" "c.422A>T" "" "p.(Glu141Val)" "r.(?)" "" "" "" "" "" "-" "0000021338" "00000195" "00" "462" "0" "462" "0" "c.462T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0