### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYBA) # 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}}" "CYBA" "cytochrome b-245, alpha polypeptide" "16" "q24" "unknown" "NC_000016.9" "UD_134408561611" "" "" "" "1" "1" "2577" "1535" "608508" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "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}}" "00000680" "CYBA" "cytochrome b-245, alpha polypeptide" "001" "NM_000101.3" "" "NP_000092.2" "" "" "" "-71" "652" "588" "88717492" "88709697" "00001" "2013-11-12 21:36:42" "" "" "" "16" ## 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}}" "00653" "233690" "Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" "233690" "" "" "" "00000" "2019-06-16 12:00:01" "" "" "Added by batch from OMIM 2019-6-16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CYBA" "00653" ## 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 = 31 "{{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}}" "0000025296" "0" "00" "16" "88709800" "88709800" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-09-16 07:40:02" "CYBA_000031" "g.88709800G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025297" "0" "00" "16" "88709819" "88709820" "ins" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-11 07:10:05" "CYBA_000024" "g.88709819_88709820insCCG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025298" "0" "00" "16" "88709869" "88709869" "subst" "35" "0.0111504" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-09-19 05:50:21" "CYBA_000025" "g.88709869C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025299" "0" "00" "16" "88709882" "88709882" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:19:52" "CYBA_000026" "g.88709882G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025300" "0" "00" "16" "88709915" "88709916" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:19:59" "CYBA_000027" "g.88709915_88709916insCGATCTGCGGCCGCTCCCGGGGCTTGGGCTCGATGGGCGTCCACTGCT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025301" "0" "00" "16" "88709946" "88709946" "subst" "35" "0.00120271" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-22 10:19:15" "CYBA_000028" "g.88709946C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025302" "0" "00" "16" "88709954" "88709954" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:20:10" "CYBA_000029" "g.88709954G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025303" "0" "00" "16" "88709968" "88709968" "subst" "35" "0.0172914" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:20:16" "CYBA_000030" "g.88709968A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025304" "0" "00" "16" "88709976" "88709976" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-17 22:35:22" "CYBA_000006" "g.88709976C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025305" "0" "00" "16" "88709984" "88709984" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-11 07:10:05" "CYBA_000007" "g.88709984G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025306" "0" "00" "16" "88712539" "88712539" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:48:42" "CYBA_000008" "g.88712539G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025307" "0" "00" "16" "88712599" "88712599" "subst" "51" "0.000156814" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-03 04:41:25" "CYBA_000009" "g.88712599C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025308" "0" "00" "16" "88712620" "88712620" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:48:52" "CYBA_000010" "g.88712620G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025309" "0" "00" "16" "88713153" "88713153" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:48:58" "CYBA_000011" "g.88713153G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025310" "0" "00" "16" "88713162" "88713162" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:49:03" "CYBA_000012" "g.88713162C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025311" "0" "00" "16" "88713169" "88713169" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:49:08" "CYBA_000013" "g.88713169T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025312" "0" "00" "16" "88713176" "88713176" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-11 02:06:12" "CYBA_000014" "g.88713176C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025313" "0" "00" "16" "88713181" "88713181" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:49:17" "CYBA_000015" "g.88713181C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025314" "0" "00" "16" "88713182" "88713182" "subst" "35" "0.0000769468" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:49:22" "CYBA_000016" "g.88713182G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025315" "0" "00" "16" "88713204" "88713204" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-11 14:38:48" "CYBA_000017" "g.88713204del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025316" "0" "00" "16" "88713210" "88713210" "subst" "35" "0.000153894" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-22 10:57:15" "CYBA_000018" "g.88713210G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025317" "0" "00" "16" "88713213" "88713213" "subst" "35" "0.0486303" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-11 14:08:49" "CYBA_000019" "g.88713213C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025318" "0" "00" "16" "88713250" "88713250" "subst" "35" "0.0000769468" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:49:57" "CYBA_000020" "g.88713250G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025319" "0" "00" "16" "88713504" "88713504" "subst" "35" "0.000846545" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-09-07 23:39:59" "CYBA_000021" "g.88713504C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025320" "0" "00" "16" "88713519" "88713519" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-18 05:40:45" "CYBA_000022" "g.88713519T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025321" "0" "00" "16" "88713533" "88713533" "subst" "35" "0.00407818" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:50:12" "CYBA_000023" "g.88713533T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025322" "0" "00" "16" "88713539" "88713539" "subst" "35" "0.0000769468" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:59:40" "CYBA_000001" "g.88713539T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025323" "0" "00" "16" "88713546" "88713546" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-02 13:39:47" "CYBA_000002" "g.88713546G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025324" "0" "00" "16" "88714511" "88714511" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:00:06" "CYBA_000003" "g.88714511C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025326" "0" "00" "16" "88717415" "88717415" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-02 19:55:57" "CYBA_000004" "g.88717415G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025327" "0" "00" "16" "88717491" "88717491" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:00:22" "CYBA_000005" "g.88717491C>T" "" "" "" "" "" "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 = 31 "{{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}}" "0000025296" "00000680" "00" "549" "0" "549" "0" "c.549C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025297" "00000680" "00" "529" "0" "530" "0" "c.529_530insCGG" "" "p.(Ala176dup)" "r.(?)" "" "" "" "" "" "-" "0000025298" "00000680" "00" "480" "0" "480" "0" "c.480G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025299" "00000680" "00" "467" "0" "467" "0" "c.467C>A" "" "p.(Pro156Gln)" "r.(?)" "" "" "" "" "" "-" "0000025300" "00000680" "00" "433" "0" "434" "0" "c.433_434insAGCAGTGGACGCCCATCGAGCCCAAGCCCCGGGAGCGGCCGCAGATCG" "" "p.(Glu129_Ile144dup)" "r.(?)" "" "" "" "" "" "-" "0000025301" "00000680" "00" "403" "0" "403" "0" "c.403G>A" "" "p.(Glu135Lys)" "r.(?)" "" "" "" "" "" "-" "0000025302" "00000680" "00" "395" "0" "395" "0" "c.395C>T" "" "p.(Thr132Met)" "r.(?)" "" "" "" "" "" "-" "0000025303" "00000680" "00" "381" "0" "381" "0" "c.381T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025304" "00000680" "00" "373" "0" "373" "0" "c.373G>A" "" "p.(Ala125Thr)" "r.(?)" "" "" "" "" "" "-" "0000025305" "00000680" "00" "370" "-5" "370" "-5" "c.370-5C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025306" "00000680" "00" "354" "0" "354" "0" "c.354C>A" "" "p.(Ser118Arg)" "r.(?)" "" "" "" "" "" "-" "0000025307" "00000680" "00" "294" "0" "294" "0" "c.294G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025308" "00000680" "00" "288" "-15" "288" "-15" "c.288-15C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025309" "00000680" "00" "287" "10" "287" "10" "c.287+10C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025310" "00000680" "00" "287" "1" "287" "1" "c.287+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025311" "00000680" "00" "281" "0" "281" "0" "c.281A>G" "" "p.(His94Arg)" "r.(?)" "" "" "" "" "" "-" "0000025312" "00000680" "00" "274" "0" "274" "0" "c.274G>A" "" "p.(Val92Ile)" "r.(?)" "" "" "" "" "" "-" "0000025313" "00000680" "00" "269" "0" "269" "0" "c.269G>A" "" "p.(Arg90Gln)" "r.(?)" "" "" "" "" "" "-" "0000025314" "00000680" "00" "268" "0" "268" "0" "c.268C>T" "" "p.(Arg90Trp)" "r.(?)" "" "" "" "" "" "-" "0000025315" "00000680" "00" "246" "0" "246" "0" "c.246del" "" "p.(Phe83Leufs*108)" "r.(?)" "" "" "" "" "" "-" "0000025316" "00000680" "00" "240" "0" "240" "0" "c.240C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025317" "00000680" "00" "237" "0" "237" "0" "c.237G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025318" "00000680" "00" "204" "-4" "204" "-4" "c.204-4C>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025319" "00000680" "00" "203" "5" "203" "5" "c.203+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025320" "00000680" "00" "193" "0" "193" "0" "c.193A>G" "" "p.(Met65Val)" "r.(?)" "" "" "" "" "" "-" "0000025321" "00000680" "00" "179" "0" "179" "0" "c.179A>C" "" "p.(Lys60Thr)" "r.(?)" "" "" "" "" "" "-" "0000025322" "00000680" "00" "173" "0" "173" "0" "c.173A>G" "" "p.(Lys58Arg)" "r.(?)" "" "" "" "" "" "-" "0000025323" "00000680" "00" "166" "0" "166" "0" "c.166C>T" "" "p.(Arg56Trp)" "r.(?)" "" "" "" "" "" "-" "0000025324" "00000680" "00" "70" "0" "70" "0" "c.70G>A" "" "p.(Gly24Arg)" "r.(?)" "" "" "" "" "" "-" "0000025326" "00000680" "00" "7" "0" "7" "0" "c.7C>T" "" "p.(Gln3*)" "r.(?)" "" "" "" "" "" "-" "0000025327" "00000680" "00" "-70" "0" "-70" "0" "c.-70G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0