### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C21orf59)
# 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}}"
"C21orf59" "chromosome 21 open reading frame 59" "21" "q22.1" "unknown" "NC_000021.8" "UD_136067071908" "" "http://www.LOVD.nl/CFAP298" "" "1" "1301" "56683" "615494" "1" "1" "1" "1" "Alias C21orf48, C21orf59\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C21orf59 to CFAP298" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-02-09 17:41:33" "00006" "2025-02-10 10:44:44"
## 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}}"
"00004186" "C21orf59" "transcript variant 1" "001" "NM_021254.2" "" "NP_067077.1" "" "" "" "-365" "1062" "873" "33984918" "33973984" "" "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"
"00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20"
"03969" "CILD26" "dyskinesia, ciliary, primary, 26 (CILD-26)" "AR" "615500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"C21orf59" "00332"
"C21orf59" "03969"
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00292979" "" "" "" "32" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00462348" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00292979" "00198"
"00462348" "00332"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00332, 03969
## Count = 1
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000349847" "00332" "00462348" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" ""
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000294147" "00292979" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000463980" "00462348" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD"
## 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 = 4
"{{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}}"
"0000650836" "1" "10" "21" "33975515" "33975515" "subst" "0.00430037" "03575" "C21orf59_000002" "g.33975515C>T" "32/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "32 heterozygous, no homozygous; {DB:CLININrs61735781}" "Germline" "" "rs61735781" "0" "" "" "g.32603205C>T" "" "benign" ""
"0000855948" "0" "30" "21" "33975515" "33975515" "subst" "0.00430037" "01943" "C21orf59_000002" "g.33975515C>T" "" "" "" "CFAP298(NM_021254.3):c.622G>A (p.V208M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000866612" "0" "50" "21" "33982250" "33982250" "subst" "0" "02329" "C21orf59_000003" "g.33982250G>C" "" "" "" "CFAP298(NM_021254.4):c.205C>G (p.Q69E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001027624" "0" "10" "21" "33984477" "33984477" "subst" "0.00252175" "00006" "C21orf59_000001" "g.33984477T>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs138178722" "0" "" "" "g.32612167T>G" "" "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 C21orf59
## Count = 4
"{{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}}"
"0000650836" "00004186" "10" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Val208Met)" ""
"0000855948" "00004186" "30" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Val208Met)" ""
"0000866612" "00004186" "50" "205" "0" "205" "0" "c.205C>G" "r.(?)" "p.(Gln69Glu)" ""
"0001027624" "00004186" "30" "77" "0" "77" "0" "c.77A>C" "r.(?)" "p.(Glu26Ala)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000294147" "0000650836"
"0000463980" "0001027624"