### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CCDC79)
# 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}}"
"CCDC79" "coiled-coil domain containing 79" "16" "q22.1" "unknown" "NC_000016.9" "UD_136020186034" "" "https://www.LOVD.nl/TERB1" "" "1" "26675" "283847" "617332" "1" "1" "1" "1" "NOTE: gene name changed from CCDC79 to TERB1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from CCDC79 to TERB1" "0" "" "0" "00001" "2013-05-03 00:00:00" "00006" "2022-02-16 18:00:18" "00000" "2025-11-01 13:22:20"
## 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}}"
"00004505" "CCDC79" "coiled-coil domain containing 79" "001" "NM_001136505.1" "" "NP_001129977.1" "" "" "" "-262" "2184" "2184" "66835523" "66788879" "" "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}}"
"00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25"
"05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" ""
"06921" "SPGF60" "spermatogenic failure, type 60" "AR" "619646" "" "" "" "00006" "2022-04-14 20:56:31" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"CCDC79" "06921"
## 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}}"
"00403105" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Algeria" "" "0" "" "" "" "P0145"
"00446588" "" "" "" "1" "" "00764" "" "" "F" "yes" "Egypt" "" "" "" "" "" "2105"
"00446590" "" "" "" "1" "" "00764" "" "" "F" "yes" "Lebanon" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}" "{{diseaseid}}"
"00403105" "00201"
"00446588" "05370"
"00446590" "05370"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00201, 05370, 06921
## Count = 3
"{{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}}"
"0000295852" "00201" "00403105" "00006" "Familial, autosomal recessive" "" "left/right testis volume 10-15/10-15 mL; FSH 4.23 IU/L; testis meiotic spermatogenic arrest; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "" "non-obstructive azoospermia"
"0000335789" "05370" "00446588" "00764" "Familial, autosomal recessive" "26y08m" "elevated LH and FSH; severely decreased AMH; small ovaries" "" "" "" "" "" "" "" "Primary female infertility" "Diminished ovarian reserve"
"0000335791" "05370" "00446590" "00764" "Familial, autosomal recessive" "" "4-5 years of infertility\r\nVery early miscarriage from a spontaneous pregnancy" "" "" "" "" "" "" "" "" ""
## 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}}"
"0000404346" "00403105" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000448161" "00446588" "1" "00764" "00764" "2024-01-18 17:12:43" "" "" "SEQ-NG-I" "DNA" "Whole blood" ""
"0000448163" "00446590" "1" "00764" "00764" "2024-01-18 17:39:01" "" "" "PCR" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000404346" "CCDC79"
"0000448163" "CCDC79"
## 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}}"
"0000840016" "3" "70" "16" "66812886" "66812886" "subst" "6.70997E-6" "00006" "CCDC79_000001" "g.66812886C>T" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_001136505.2:c.733G>A" "" "Germline" "" "" "0" "" "" "g.66778983C>T" "" "likely pathogenic (recessive)" ""
"0000957556" "3" "70" "16" "66819763" "66819763" "subst" "0" "00764" "CCDC79_000002" "g.66819763C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.66785860C>T" "" "likely pathogenic" "ACMG"
"0000957560" "0" "90" "16" "66801395" "66801395" "subst" "0" "00764" "CCDC79_000003" "g.66801395G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.66767492G>C" "" "pathogenic" "ACMG"
"0001002476" "0" "50" "16" "66806601" "66806601" "subst" "0" "01804" "CCDC79_000004" "g.66806601G>A" "" "" "" "CCDC79(NM_001136505.1):c.1163C>T (p.(Thr388Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001046571" "0" "50" "16" "66788947" "66788947" "subst" "0.00131779" "02325" "CCDC79_000005" "g.66788947G>A" "" "" "" "TERB1(NM_001136505.2):c.2116C>T (p.R706W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001055621" "0" "50" "16" "66836926" "66836926" "subst" "2.84557E-5" "01804" "CCDC79_000006" "g.66836926T>C" "" "" "" "NAE1(NM_003905.4):c.1591A>G (p.(Thr531Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 CCDC79
## 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}}"
"0000840016" "00004505" "70" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Gly245Arg)" ""
"0000957556" "00004505" "70" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Trp209*)" "9"
"0000957560" "00004505" "90" "1703" "0" "1703" "0" "c.1703C>G" "r.(?)" "p.(Ser568*)" ""
"0001002476" "00004505" "50" "1163" "0" "1163" "0" "c.1163C>T" "r.(?)" "p.(Thr388Ile)" ""
"0001046571" "00004505" "50" "2116" "0" "2116" "0" "c.2116C>T" "r.(?)" "p.(Arg706Trp)" ""
"0001055621" "00004505" "50" "-1665" "0" "-1665" "0" "c.-1665A>G" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{variantid}}"
"0000404346" "0000840016"
"0000448161" "0000957556"
"0000448163" "0000957560"