### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BOLA3) # 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}}" "BOLA3" "bolA family member 3" "2" "p13.1" "unknown" "NC_000002.11" "UD_134408452203" "" "" "" "1" "1" "24415" "388962" "613183" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com" "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 = 2 "{{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}}" "00000055" "BOLA3" "bolA homolog 3 (E. coli), transcript variant 2" "001" "NM_001035505.1" "" "NP_001030582.1" "" "" "" "-38" "427" "306" "74375039" "74362528" "00001" "2013-11-07 13:45:35" "" "" "" "2" "00000056" "BOLA3" "bolA homolog 3 (E. coli), transcript variant 1" "002" "NM_212552.2" "" "NP_997717.2" "" "" "" "-38" "516" "324" "74375039" "74362528" "00001" "2013-11-07 13:45:35" "" "" "" "2" ## 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}}" "00044" "MMDS2" "Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)" "614299" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BOLA3" "00044" ## 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 = 10 "{{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}}" "0000019246" "0" "55" "2" "74362530" "74362530" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:57:22" "BOLA3_000009" "g.74362530C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019246" "" "0000019247" "0" "55" "2" "74362689" "74362689" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:57:24" "BOLA3_000010" "g.74362689A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019247" "" "0000019248" "0" "55" "2" "74362725" "74362725" "subst" "35" "0.000691988" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:37" "BOLA3_000001" "g.74362725G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019248" "" "0000019249" "0" "55" "2" "74369401" "74369401" "subst" "51" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-09 11:30:33" "BOLA3_000002" "g.74369401G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019249" "" "0000019250" "0" "55" "2" "74369476" "74369476" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:41" "BOLA3_000003" "g.74369476C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019250" "" "0000019251" "0" "55" "2" "74372348" "74372348" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:43" "BOLA3_000004" "g.74372348C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019251" "" "0000019252" "0" "99" "2" "74372349" "74372349" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:45" "BOLA3_000005" "g.74372349G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019252" "" "0000019253" "0" "99" "2" "74372361" "74372362" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-08 22:46:12" "BOLA3_000006" "g.74372361_74372362insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019253" "" "0000019254" "0" "55" "2" "74375009" "74375009" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:49" "BOLA3_000007" "g.74375009C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019254" "" "0000019255" "0" "55" "2" "74375036" "74375036" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:51" "BOLA3_000008" "g.74375036G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019255" "" ## 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 = 20 "{{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}}" "0000019246" "00000055" "00" "425" "0" "425" "0" "c.*119G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019246" "00000056" "00" "514" "0" "514" "0" "c.*190G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019247" "00000055" "00" "266" "0" "266" "0" "c.266T>C" "" "p.(Leu89Ser)" "r.(?)" "" "" "" "" "" "-" "0000019247" "00000056" "00" "355" "0" "355" "0" "c.*31T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019248" "00000055" "00" "230" "0" "230" "0" "c.230C>T" "" "p.(Thr77Met)" "r.(?)" "" "" "" "" "" "-" "0000019248" "00000056" "00" "319" "0" "319" "0" "c.319C>T" "" "p.(Arg107Cys)" "r.(?)" "" "" "" "" "" "-" "0000019249" "00000055" "00" "169" "2915" "169" "2915" "c.169+2915C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019249" "00000056" "00" "256" "0" "256" "0" "c.256C>G" "" "p.(Gln86Glu)" "r.(?)" "" "" "" "" "" "-" "0000019250" "00000055" "00" "169" "2840" "169" "2840" "c.169+2840G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019250" "00000056" "00" "181" "0" "181" "0" "c.181G>A" "" "p.(Ala61Thr)" "r.(?)" "" "" "" "" "" "-" "0000019251" "00000055" "00" "137" "0" "137" "0" "c.137G>A" "" "p.(Arg46Gln)" "r.(?)" "" "" "" "" "" "-" "0000019251" "00000056" "00" "137" "0" "137" "0" "c.137G>A" "" "p.(Arg46Gln)" "r.(?)" "" "" "" "" "" "-" "0000019252" "00000055" "00" "136" "0" "136" "0" "c.136C>T" "" "p.(Arg46*)" "r.(?)" "" "" "" "" "" "-" "0000019252" "00000056" "00" "136" "0" "136" "0" "c.136C>T" "" "p.(Arg46*)" "r.(?)" "" "" "" "" "" "-" "0000019253" "00000055" "00" "123" "0" "124" "0" "c.123_124insA" "" "p.(Glu42Argfs*13)" "r.(?)" "" "" "" "" "" "-" "0000019253" "00000056" "00" "123" "0" "124" "0" "c.123_124insA" "" "p.(Glu42Argfs*13)" "r.(?)" "" "" "" "" "" "-" "0000019254" "00000055" "00" "-8" "0" "-8" "0" "c.-8G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019254" "00000056" "00" "-8" "0" "-8" "0" "c.-8G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019255" "00000055" "00" "-35" "0" "-35" "0" "c.-35C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019255" "00000056" "00" "-35" "0" "-35" "0" "c.-35C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0