### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFA1) # 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}}" "NDUFA1" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa" "X" "q24" "unknown" "NC_000023.10" "UD_132118441144" "" "" "" "1" "1" "7683" "4694" "300078" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "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}}" "00000182" "NDUFA1" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa" "001" "NM_004541.3" "" "NP_004532.1" "" "" "" "-141" "345" "213" "119005734" "119010629" "00001" "2013-11-07 13:55:24" "" "" "" "X" ## 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" "" "" "" "00575" "301020" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12" "301020" "" "" "" "00000" "2019-03-01 12:40:01" "" "" "Added by batch from OMIM 2019-01-20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NDUFA1" "00011" "NDUFA1" "00575" ## 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 = 6 "{{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}}" "0000001542" "0" "99" "X" "119005896" "119005896" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-09-01 19:39:05" "NDUFA1_000003" "g.119005896G>C" "" "{PMID:17262856:17262856}" "" "rs104894884" "subst" "0" "; clinVar; Ensembl;" "5.450" "" "" "" "" "MSCV_0001542" "" "0000001543" "0" "99" "X" "119005968" "119005968" "subst" "35" "0.00672158" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-01-25 11:17:47" "NDUFA1_000001" "g.119005968G>C" "" "{PMID:19185523:19185523};{PMID:21596602:21596602}" "" "rs1801316" "subst" "0" "; clinvar;" "3.790" "" "" "" "" "MSCV_0001543" "" "0000001544" "0" "99" "X" "119007275" "119007275" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-09-01 19:39:14" "NDUFA1_000002" "g.119007275G>C" "" "{PMID:17262856:17262856}" "" "rs104894885" "subst" "0" "; clinVar; Ensembl;" "-2.110" "" "" "" "" "MSCV_0001544" "" "0000023512" "0" "99" "X" "119005896" "119005896" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-08 03:00:48" "NDUFA1_000003" "g.119005896G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001542" "" "0000023513" "0" "11" "X" "119005968" "119005968" "subst" "35" "0.00672158" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:45:52" "NDUFA1_000001" "g.119005968G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001543" "" "0000023514" "0" "99" "X" "119007275" "119007275" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:45:53" "NDUFA1_000002" "g.119007275G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001544" "" ## 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 = 6 "{{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}}" "0000001542" "00000182" "99" "22" "0" "22" "0" "c.22G>C" "1/3" "p.(=)" "r.(=)" "probably_damaging(0.998)" "" "missense_variant" "" "" "tolerated(0.09)" "0000001543" "00000182" "99" "94" "0" "94" "0" "c.94G>C" "1/3" "p.(=)" "r.(=)" "probably_damaging(0.998)" "" "missense_variant" "" "" "tolerated(0.1)" "0000001544" "00000182" "99" "111" "0" "111" "0" "c.111G>C" "2/3" "p.(=)" "r.(=)" "probably_damaging(0.943)" "" "missense_variant" "" "" "tolerated(0.06)" "0000023512" "00000182" "00" "22" "0" "22" "0" "c.22G>C" "" "p.(Gly8Arg)" "r.(?)" "" "" "" "" "" "-" "0000023513" "00000182" "00" "94" "0" "94" "0" "c.94G>C" "" "p.(Gly32Arg)" "r.(?)" "" "" "" "" "" "-" "0000023514" "00000182" "00" "111" "0" "111" "0" "c.111G>C" "" "p.(Arg37Ser)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0