### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GFM2) # 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}}" "GFM2" "G elongation factor, mitochondrial 2" "5" "q13" "unknown" "NC_000005.9" "UD_138305532491" "" "" "" "1" "1" "29682" "84340" "606544" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.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 13:44:12" "" "" "" "" "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 = 5 "{{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}}" "00000140" "GFM2" "transcript variant 2" "001" "NM_170691.2" "" "NP_733792.1" "" "" "" "-458" "2650" "2199" "74063196" "74017029" "00001" "2013-11-07 13:49:22" "" "" "" "5" "00000141" "GFM2" "transcript variant 5" "002" "NR_104006.1" "" "" "" "" "" "1" "2530" "2530" "74063196" "74018204" "00001" "2013-11-07 13:49:22" "" "" "" "5" "00000142" "GFM2" "transcript variant 1" "003" "NM_032380.4" "" "NP_115756.2" "" "" "" "-458" "2791" "2340" "74063196" "74017029" "00001" "2013-11-07 13:49:22" "" "" "" "5" "00000143" "GFM2" "transcript variant 4" "004" "NM_001281302.1" "" "NP_001268231.1" "" "" "" "-480" "2887" "2436" "74063196" "74017029" "00001" "2013-11-07 13:49:22" "" "" "" "5" "00000144" "GFM2" "transcript variant 3" "005" "NM_170681.2" "" "NP_733781.1" "" "" "" "-458" "1962" "1542" "74063196" "74032169" "00001" "2013-11-07 13:49:22" "" "" "" "5" ## 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}}" "00648" "618397" "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39" "618397" "" "" "" "00000" "2019-06-16 12:00:01" "00001" "2019-06-17 12:31:53" "Added by batch from OMIM 2019-6-16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GFM2" "00648" ## 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}}" "0000021340" "0" "99" "5" "74041963" "74041963" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:15:18" "GFM2_000002" "g.74041963del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021340" "" "0000021341" "0" "77" "5" "74043556" "74043556" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:15:25" "GFM2_000003" "g.74043556C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021341" "" "0000021342" "0" "99" "5" "74054703" "74054703" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-20 08:56:18" "GFM2_000001" "g.74054703T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021342" "" "0000026339" "0" "00" "5" "74018387" "74018387" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:54:50" "GFM2_000004" "g.74018387C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026340" "0" "00" "5" "74021950" "74021950" "subst" "35" "0.000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:55:09" "GFM2_000005" "g.74021950A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026341" "0" "00" "5" "74055190" "74055190" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:55:31" "GFM2_000006" "g.74055190T>C" "" "" "" "" "" "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 = 28 "{{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}}" "0000021340" "00000140" "00" "636" "0" "636" "0" "c.636del" "" "p.(Glu213Argfs*3)" "r.(?)" "" "" "" "" "" "-" "0000021340" "00000141" "00" "1094" "0" "1094" "0" "n.1094del" "" "" "" "" "" "" "" "" "-" "0000021340" "00000142" "00" "636" "0" "636" "0" "c.636del" "" "p.(Glu213Argfs*3)" "r.(?)" "" "" "" "" "" "-" "0000021340" "00000143" "00" "732" "0" "732" "0" "c.732del" "" "p.(Glu245Argfs*3)" "r.(?)" "" "" "" "" "" "-" "0000021340" "00000144" "00" "636" "0" "636" "0" "c.636del" "" "p.(Glu213Argfs*3)" "r.(?)" "" "" "" "" "" "-" "0000021341" "00000140" "00" "569" "0" "569" "0" "c.569G>A" "" "p.(Arg190Gln)" "r.(?)" "" "" "" "" "" "-" "0000021341" "00000141" "00" "1027" "0" "1027" "0" "n.1027G>A" "" "" "" "" "" "" "" "" "-" "0000021341" "00000142" "00" "569" "0" "569" "0" "c.569G>A" "" "p.(Arg190Gln)" "r.(?)" "" "" "" "" "" "-" "0000021341" "00000143" "00" "665" "0" "665" "0" "c.665G>A" "" "p.(Arg222Gln)" "r.(?)" "" "" "" "" "" "-" "0000021341" "00000144" "00" "569" "0" "569" "0" "c.569G>A" "" "p.(Arg190Gln)" "r.(?)" "" "" "" "" "" "-" "0000021342" "00000140" "00" "275" "0" "275" "0" "c.275A>C" "" "p.(Tyr92Ser)" "r.(?)" "" "" "" "" "" "-" "0000021342" "00000141" "00" "733" "0" "733" "0" "n.733A>C" "" "" "" "" "" "" "" "" "-" "0000021342" "00000142" "00" "275" "0" "275" "0" "c.275A>C" "" "p.(Tyr92Ser)" "r.(?)" "" "" "" "" "" "-" "0000021342" "00000143" "00" "371" "0" "371" "0" "c.371A>C" "" "p.(Tyr124Ser)" "r.(?)" "" "" "" "" "" "-" "0000021342" "00000144" "00" "275" "0" "275" "0" "c.275A>C" "" "p.(Tyr92Ser)" "r.(?)" "" "" "" "" "" "-" "0000026339" "00000140" "00" "1888" "-1" "1888" "-1" "c.1888-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026339" "00000141" "00" "2348" "-1" "2348" "-1" "n.2348-1G>A" "" "" "" "" "" "" "" "" "-" "0000026339" "00000142" "00" "2029" "-1" "2029" "-1" "c.2029-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026339" "00000143" "00" "2125" "-1" "2125" "-1" "c.2125-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026340" "00000140" "00" "1587" "0" "1587" "0" "c.1587T>A" "" "p.(Asp529Glu)" "r.(?)" "" "" "" "" "" "-" "0000026340" "00000141" "00" "2047" "0" "2047" "0" "n.2047T>A" "" "" "" "" "" "" "" "" "-" "0000026340" "00000142" "00" "1728" "0" "1728" "0" "c.1728T>A" "" "p.(Asp576Glu)" "r.(?)" "" "" "" "" "" "-" "0000026340" "00000143" "00" "1824" "0" "1824" "0" "c.1824T>A" "" "p.(Asp608Glu)" "r.(?)" "" "" "" "" "" "-" "0000026341" "00000140" "00" "206" "4" "206" "4" "c.206+4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026341" "00000141" "00" "664" "4" "664" "4" "n.664+4A>G" "" "" "" "" "" "" "" "" "-" "0000026341" "00000142" "00" "206" "4" "206" "4" "c.206+4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026341" "00000143" "00" "302" "4" "302" "4" "c.302+4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026341" "00000144" "00" "206" "4" "206" "4" "c.206+4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0