### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFS6) # 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}}" "NDUFS6" "NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)" "5" "p15.33" "unknown" "NC_000005.9" "UD_132118324183" "" "" "" "1" "1" "7713" "4726" "603848" "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 ; 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}}" "00000214" "NDUFS6" "NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)" "001" "NM_004553.4" "" "NP_004544.1" "" "" "" "-36" "510" "375" "1801496" "1816165" "00001" "2013-11-07 13:56:54" "" "" "" "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" "" "" "" "00587" "618232" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9; MC1DN9" "618232" "" "" "" "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}}" "NDUFS6" "00011" "NDUFS6" "00587" ## 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 = 12 "{{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}}" "0000001016" "0" "99" "5" "1815999" "1815999" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-06 20:43:42" "NDUFS6_000001" "g.1815999G>A" "" "{PMID:19259137:19259137}" "" "rs267606913" "subst" "0" "; clinVar; Ensembl;" "4.440" "" "" "" "" "MSCV_0001016" "" "0000021290" "0" "77" "5" "1801520" "1801520" "subst" "35" "0.0136233" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:56:17" "NDUFS6_000013" "g.1801520C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021290" "" "0000021291" "0" "55" "5" "1801555" "1801555" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:46" "NDUFS6_000010" "g.1801555C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021291" "" "0000021292" "0" "55" "5" "1801558" "1801558" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-14 19:57:49" "NDUFS6_000011" "g.1801558G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021292" "" "0000021293" "0" "55" "5" "1802457" "1802457" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-14 20:03:07" "NDUFS6_000012" "g.1802457G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021293" "" "0000021294" "0" "55" "5" "1814464" "1814464" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-07 07:40:26" "NDUFS6_000007" "g.1814464C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021294" "" "0000021295" "0" "33" "5" "1815950" "1815950" "subst" "35" "0.118561" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-07 21:18:23" "NDUFS6_000008" "g.1815950T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021295" "" "0000021296" "0" "99" "5" "1815999" "1815999" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-06 08:57:52" "NDUFS6_000001" "g.1815999G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001016" "" "0000021297" "0" "55" "5" "1816024" "1816024" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-10 00:32:45" "NDUFS6_000009" "g.1816024C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021297" "" "0000021298" "0" "77" "5" "1816045" "1816045" "subst" "35" "0.000999539" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:25" "NDUFS6_000005" "g.1816045C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021298" "" "0000021299" "0" "55" "5" "1816057" "1816057" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-07 21:18:52" "NDUFS6_000006" "g.1816057A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021299" "" "0000026335" "0" "00" "5" "1802490" "1802490" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-07 07:39:07" "NDUFS6_000014" "g.1802490T>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 = 12 "{{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}}" "0000001016" "00000214" "99" "344" "0" "344" "0" "c.344G>A" "4/4" "p.(=)" "r.(=)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000021290" "00000214" "00" "-12" "0" "-12" "0" "c.-12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021291" "00000214" "00" "24" "0" "24" "0" "c.24C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021292" "00000214" "00" "27" "0" "27" "0" "c.27G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021293" "00000214" "00" "155" "0" "155" "0" "c.155G>C" "" "p.(Arg52Thr)" "r.(?)" "" "" "" "" "" "-" "0000021294" "00000214" "00" "198" "0" "198" "0" "c.198C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021295" "00000214" "00" "310" "-15" "310" "-15" "c.310-15T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021296" "00000214" "00" "344" "0" "344" "0" "c.344G>A" "" "p.(Cys115Tyr)" "r.(?)" "" "" "" "" "" "-" "0000021297" "00000214" "00" "369" "0" "369" "0" "c.369C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021298" "00000214" "00" "390" "0" "390" "0" "c.*15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021299" "00000214" "00" "402" "0" "402" "0" "c.*27A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026335" "00000214" "00" "186" "2" "186" "2" "c.186+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0