### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CFAP61) # 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}}" "CFAP61" "cilia and flagella associated protein 61" "20" "p11.23" "unknown" "NC_000020.10" "UD_141570688783" "" "https://www.LOVD.nl/CFAP61" "" "1" "15872" "26074" "" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CFAP61_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2014-11-08 00:00:00" "00006" "2023-01-30 16:53:16" "00000" "2023-04-16 21:50:28" ## 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}}" "00025803" "CFAP61" "transcript variant 1" "000" "NM_015585.4" "" "NP_056400.3" "" "" "" "-96" "4002" "3714" "20033176" "20341342" "00006" "2023-01-30 16:35:58" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CFAP61" "00201" ## 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}}" "00431147" "" "" "" "1" "" "00006" "{PMID:Hu 2023:35387802}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam1" "00431148" "" "" "" "1" "" "00006" "{PMID:Hu 2023:35387802}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00431147" "00201" "00431148" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000321755" "00201" "00431147" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "oligoasthenoteratozoospermia" "0000321756" "00201" "00431148" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "oligoasthenoteratozoospermia" ## 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}}" "0000432558" "00431147" "1" "00006" "00006" "2023-01-30 16:42:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432559" "00431148" "1" "00006" "00006" "2023-01-30 16:47:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 6 "{{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}}" "0000866393" "0" "50" "20" "20123539" "20123539" "dup" "0" "01943" "CFAP61_000005" "g.20123539dup" "" "" "" "CFAP61(NM_015585.4):c.898dupA (p.I300Nfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866394" "0" "50" "20" "20269511" "20269511" "subst" "8.12585E-6" "01943" "CFAP61_000006" "g.20269511G>A" "" "" "" "CFAP61(NM_015585.4):c.3055G>A (p.E1019K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918089" "11" "90" "20" "20177277" "20177277" "subst" "8.93336E-5" "00006" "CFAP61_000001" "g.20177277C>T" "" "{PMID:Hu 2023:35387802}" "" "C1654T" "" "Germline" "" "" "0" "" "" "g.20196633C>T" "" "pathogenic (recessive)" "" "0000918090" "21" "90" "20" "20269367" "20269367" "subst" "0.000182749" "00006" "CFAP61_000002" "g.20269367G>A" "" "{PMID:Hu 2023:35387802}" "" "" "" "Germline" "" "" "0" "" "" "g.20288723G>A" "" "pathogenic (recessive)" "" "0000918091" "21" "90" "20" "20177289" "20177289" "subst" "0.000219275" "00006" "CFAP61_000003" "g.20177289G>A" "" "{PMID:Hu 2023:35387802}" "" "" "" "Germline" "" "" "0" "" "" "g.20196645G>A" "" "pathogenic (recessive)" "" "0000918092" "11" "90" "20" "20051496" "20051496" "subst" "0" "00006" "CFAP61_000004" "g.20051496A>G" "" "{PMID:Hu 2023:35387802}" "" "" "effect on RNA deduced from in vitro min-gene splicing assay" "Germline" "" "" "0" "" "" "g.20070852A>G" "" "pathogenic (recessive)" "" ## 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 CFAP61 ## Count = 6 "{{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}}" "0000866393" "00025803" "50" "898" "0" "898" "0" "c.898dup" "r.(?)" "p.(Ile300Asnfs*40)" "" "0000866394" "00025803" "50" "3055" "0" "3055" "0" "c.3055G>A" "r.(?)" "p.(Glu1019Lys)" "" "0000918089" "00025803" "90" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552Cys)" "" "0000918090" "00025803" "90" "2911" "0" "2911" "0" "c.2911G>A" "r.(?)" "p.(Asp971Asn)" "" "0000918091" "00025803" "90" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Gly556Arg)" "" "0000918092" "00025803" "90" "144" "-2" "144" "-2" "c.144-2A>G" "r.(144_150del)" "p.(Glu49ProfsTer50)" "2i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000432558" "0000918089" "0000432558" "0000918090" "0000432559" "0000918091" "0000432559" "0000918092"