### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C7orf63)
# 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}}"
"C7orf63" "chromosome 7 open reading frame 63" "7" "q21.13" "unknown" "NC_000007.13" "UD_132465385248" "" "https://www.LOVD.nl/CFAP69" "" "1" "26107" "79846" "0" "1" "1" "1" "1" "NOTE: gene name changed from C7orf63 to CFAP69\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "NOTE: gene name changed from C7orf63 to CFAP69" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-13 22:45:13" "00000" "2024-04-19 20:27:30"
## 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}}"
"00003832" "C7orf63" "transcript variant 1" "001" "NM_001039706.2" "" "NP_001034795.2" "" "" "" "-251" "3651" "2826" "89874488" "89940377" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" ""
"05564" "SPGF24" "spermatogenic failure, type 24 (SPGF-24)" "AR" "617959" "" "autosomal recessive" "" "00006" "2019-02-13 22:52:06" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"C7orf63" "05564"
## 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}}"
"00225419" "" "" "" "1" "" "00006" "{PMID:Dong 2018:29606301}" "" "M" "" "" "" "0" "" "" "Iran" "29606301-PatCFAP69-1"
"00225420" "" "" "" "1" "" "00006" "{PMID:Dong 2018:29606301}" "" "M" "" "" "" "0" "" "" "Tunisia" "29606301-PatCFAP69-2"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00225419" "05562"
"00225420" "05562"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05562, 05564
## Count = 2
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000170536" "05562" "00225419" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male fertility"
"0000170537" "05562" "00225420" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male fertility"
## 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}}"
"0000226498" "00225419" "1" "00006" "00006" "2019-02-15 17:38:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000226499" "00225420" "1" "00006" "00006" "2019-02-15 17:38:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000226498" "C7orf63"
"0000226499" "C7orf63"
## 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 = 5
"{{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}}"
"0000458746" "3" "90" "7" "89901273" "89901273" "subst" "0" "00006" "C7orf63_000001" "g.89901273G>A" "2/78 cases MMAF" "{PMID:Dong 2018:29606301}" "" "" "" "Germline" "" "" "0" "" "" "g.90271959G>A" "" "pathogenic (recessive)" ""
"0000458747" "1" "90" "7" "89901175" "89901175" "subst" "0" "00006" "C7orf63_000002" "g.89901175C>T" "2/78 cases MMAF" "{PMID:Dong 2018:29606301}" "" "" "" "Germline" "" "" "0" "" "" "g.90271861C>T" "" "pathogenic (recessive)" ""
"0000929383" "0" "90" "7" "89934091" "89934092" "dup" "0" "02327" "C7orf63_000003" "g.89934091_89934092dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000977876" "0" "30" "7" "89909175" "89909175" "subst" "0.000125292" "01804" "C7orf63_000004" "g.89909175T>C" "" "" "" "CFAP69(NM_001039706.3):c.1340T>C (p.(Val447Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977877" "0" "30" "7" "89912210" "89912210" "subst" "0.000324765" "01804" "C7orf63_000005" "g.89912210G>A" "" "" "" "CFAP69(NM_001039706.3):c.1377G>A (p.(Pro459=))" "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 C7orf63
## Count = 5
"{{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}}"
"0000458746" "00003832" "90" "860" "1" "860" "1" "c.860+1G>A" "r.spl" "p.?" ""
"0000458747" "00003832" "90" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Gln255*)" ""
"0000929383" "00003832" "90" "2222" "0" "2223" "0" "c.2222_2223dup" "r.(?)" "p.(Phe742Ilefs*27)" ""
"0000977876" "00003832" "30" "1340" "0" "1340" "0" "c.1340T>C" "r.(?)" "p.(Val447Ala)" ""
"0000977877" "00003832" "30" "1377" "0" "1377" "0" "c.1377G>A" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000226498" "0000458746"
"0000226499" "0000458747"