### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FXN) # 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}}" "FXN" "frataxin" "9" "q21.11" "unknown" "NC_000009.11" "UD_132118813313" "" "" "" "1" "1" "3951" "2395" "606829" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "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 = 3 "{{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}}" "00000746" "FXN" "transcript variant 3" "001" "NM_001161706.1" "" "NP_001155178.1" "" "" "" "-220" "760" "516" "71650479" "71715094" "00001" "2013-11-12 21:39:21" "" "" "" "9" "00000747" "FXN" "transcript variant 2" "002" "NM_181425.2" "" "NP_852090.1" "" "" "" "-220" "6956" "591" "71650479" "71693993" "00001" "2013-11-12 21:39:21" "" "" "" "9" "00000748" "FXN" "transcript variant 1" "003" "NM_000144.4" "" "NP_000135.2" "" "" "" "-220" "6948" "633" "71650479" "71693993" "00001" "2013-11-12 21:39:21" "" "" "" "9" ## 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}}" "00491" "FRDA;FRDA1;FA" "FRIEDREICH ATAXIA 1; FRDA;FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED" "229300" "" "" "" "00001" "2015-03-22 22:47:59" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FXN" "00491" ## 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 = 3 "{{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}}" "0000022772" "0" "11" "9" "71650752" "71650752" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-10 19:40:39" "FXN_000002" "g.71650752A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022772" "" "0000022773" "0" "99" "9" "71668163" "71668168" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:34:28" "FXN_000001" "g.71668163_71668168delinsTACACCTTGAGGACA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022773" "" "0000026769" "0" "00" "9" "71679907" "71679907" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:52:40" "FXN_000003" "g.71679907C>G" "" "" "" "" "" "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 = 9 "{{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}}" "0000022772" "00000746" "00" "54" "0" "54" "0" "c.54A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022772" "00000747" "00" "54" "0" "54" "0" "c.54A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022772" "00000748" "00" "54" "0" "54" "0" "c.54A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022773" "00000746" "00" "371" "0" "376" "0" "c.371_376delinsTACACCTTGAGGACA" "" "p.(Asp124_Ser126delinsValHisLeuGluAspThr)" "r.(?)" "" "" "" "" "" "-" "0000022773" "00000747" "00" "371" "0" "376" "0" "c.371_376delinsTACACCTTGAGGACA" "" "p.(Asp124_Ser126delinsValHisLeuGluAspThr)" "r.(?)" "" "" "" "" "" "-" "0000022773" "00000748" "00" "371" "0" "376" "0" "c.371_376delinsTACACCTTGAGGACA" "" "p.(Asp124_Ser126delinsValHisLeuGluAspThr)" "r.(?)" "" "" "" "" "" "-" "0000026769" "00000746" "00" "438" "0" "438" "0" "c.438C>G" "" "p.(Asn146Lys)" "r.(?)" "" "" "" "" "" "-" "0000026769" "00000747" "00" "438" "0" "438" "0" "c.438C>G" "" "p.(Asn146Lys)" "r.(?)" "" "" "" "" "" "-" "0000026769" "00000748" "00" "438" "0" "438" "0" "c.438C>G" "" "p.(Asn146Lys)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0