### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FDX1L)
# 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}"
"FDX1L" "ferredoxin 1-like" "19" "p13.2" "unknown" "NC_000019.9" "UD_132457030746" "" "http://www.LOVD.nl/FDX2" "" "1" "30546" "112812" "614585" "1" "1" "1" "1" "Alias FDX1L.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/FDX1L_codingDNA.html" "1" "" "NOTE: gene name changed from FDX1L to FDX2" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-11-25 10:09:09" "00000" "2024-08-28 13:16:32"
## 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}}"
"00007869" "FDX1L" "ferredoxin 1-like" "001" "NM_001031734.2" "" "NP_001026904.1" "" "" "" "-19" "823" "552" "10426691" "10420891" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31"
"01926" "MEOAL;MMDS8" "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "AR" "251900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-25 10:11:25"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"FDX1L" "00244"
"FDX1L" "01926"
## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00003030" "" "" "" "1" "" "00146" "" "recurrent myoglobinuria" "F" "yes" "Israel" "" "0" "" "" "Morocco;Jewish" ""
"00292015" "" "" "" "132" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304640" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}" "{{diseaseid}}"
"00003030" "00244"
"00292015" "00198"
"00304640" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 01926
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000002937" "00003030" "1" "00146" "00146" "2013-10-02 19:56:25" "" "" "SEQ-NG-S" "DNA" "" ""
"0000293183" "00292015" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305769" "00304640" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
## 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 = 8
"{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}"
"0000021346" "3" "95" "19" "10426672" "10426672" "subst" "0" "00146" "FDX1L_000001" "g.10426672T>A" "" "" "" "1A>T / Met1Leu" "" "Germline" "yes" "" "0" "" "" "g.10315996T>A" "" "pathogenic" ""
"0000021430" "0" "95" "19" "10426672" "10426672" "subst" "0" "00146" "FDX1L_000001" "g.10426672T>A" "" "" "" "" "1/288 control chromosomes (ethnic match)" "Unknown" "" "" "0" "" "" "g.10315996T>A" "" "pathogenic" ""
"0000565563" "0" "30" "19" "10429859" "10429859" "subst" "0.00079752" "01804" "FDX1L_000003" "g.10429859C>T" "" "" "" "RAVER1(NM_133452.2):c.1879G>A (p.(Gly627Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10319183C>T" "" "likely benign" ""
"0000565564" "0" "50" "19" "10431331" "10431331" "subst" "0.000254324" "01943" "FDX1L_000004" "g.10431331C>T" "" "" "" "RAVER1(NM_133452.3):c.1770G>A (p.S590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10320655C>T" "" "VUS" ""
"0000565566" "0" "30" "19" "10432222" "10432222" "subst" "0.00047788" "01804" "FDX1L_000006" "g.10432222C>T" "" "" "" "RAVER1(NM_133452.2):c.1297G>A (p.(Gly433Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10321546C>T" "" "likely benign" ""
"0000649872" "1" "10" "19" "10426597" "10426597" "subst" "0.0341855" "03575" "FDX1L_000007" "g.10426597T>C" "132/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "132 heterozygous; {DB:CLININrs62640397}" "Germline" "" "rs62640397" "0" "" "" "g.10315921T>C" "" "benign" ""
"0000669457" "3" "10" "19" "10426597" "10426597" "subst" "0.0341855" "03575" "FDX1L_000007" "g.10426597T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs62640397}" "Germline" "" "rs62640397" "0" "" "" "g.10315921T>C" "" "benign" ""
"0001004283" "0" "30" "19" "10431596" "10431596" "subst" "0" "01804" "FDX1L_000008" "g.10431596T>C" "" "" "" "RAVER1(NM_133452.2):c.1556A>G (p.(Tyr519Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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.
## Note: Only showing Variants_On_Transcript columns active for Genes FDX1L
## Count = 8
"{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}"
"0000021346" "00007869" "95" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.0?" "1"
"0000021430" "00007869" "95" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.0?" "1"
"0000565563" "00007869" "30" "-3187" "0" "-3187" "0" "c.-3187G>A" "r.(?)" "p.(=)" ""
"0000565564" "00007869" "50" "-4659" "0" "-4659" "0" "c.-4659G>A" "r.(?)" "p.(=)" ""
"0000565566" "00007869" "30" "-5550" "0" "-5550" "0" "c.-5550G>A" "r.(?)" "p.(=)" ""
"0000649872" "00007869" "10" "76" "0" "76" "0" "c.76A>G" "r.(?)" "p.(Arg26Gly)" ""
"0000669457" "00007869" "10" "76" "0" "76" "0" "c.76A>G" "r.(?)" "p.(Arg26Gly)" ""
"0001004283" "00007869" "30" "-4924" "0" "-4924" "0" "c.-4924A>G" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{variantid}}"
"0000002937" "0000021346"
"0000293183" "0000649872"
"0000305769" "0000669457"