### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZP3) # 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}}" "ZP3" "zona pellucida glycoprotein 3 (sperm receptor)" "7" "q11.23" "unknown" "NG_033938.1" "UD_132465115981" "" "https://www.LOVD.nl/ZP3" "" "1" "13189" "7784" "182889" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ZP3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-09 09:51:09" "00000" "2023-07-07 10:10:56" ## 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}}" "00023766" "ZP3" "transcript variant 1" "002" "NM_001110354.1" "" "NP_001103824.1" "" "" "" "-10" "1290" "1275" "76054272" "76071388" "" "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}}" "05450" "OZEMA;OOMD" "ocyte/zygote/embryo maturation arrest" "" "" "" "" "" "00006" "2018-07-09 09:38:13" "00006" "2024-11-08 11:43:01" "05451" "OZEMA3;OOMD" "ocyte/zygote/embryo maturation arrest, type 3" "AD" "617712" "" "autosomal dominant" "" "00006" "2018-07-09 09:55:14" "00006" "2024-11-08 11:48:51" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZP3" "05450" "ZP3" "05451" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00165314" "" "" "" "6" "" "00006" "{PMID:Chen 2017:28886344}" "4-generation family, 6 affected females, unaffected carrier males" "F" "no" "China" "" "0" "" "" "" "28886344-FamA" "00165315" "" "" "" "4" "" "00006" "{PMID:Chen 2017:28886344}" "4-generation family, 4 affected females, unaffected carrier males" "F" "no" "China" "" "0" "" "" "" "28886344-FamB" "00165316" "" "" "" "1" "" "00006" "{PMID:Chen 2017:28886344}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "China" "" "0" "" "" "" "28886344-FamCPatSC1" "00165317" "" "" "" "1" "" "00006" "{PMID:Chen 2017:28886344}" "" "F" "?" "China" "" "0" "" "" "" "28886344-PatSC2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00165314" "05450" "00165315" "05450" "00165316" "05450" "00165317" "05450" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05450, 05451 ## Count = 4 "{{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}}" "0000130178" "05450" "00165314" "00006" "Familial, autosomal dominant" "" "see paper; ...," "" "" "" "" "" "" "" "OOMD-3" "empty follicle syndrome" "0000130179" "05450" "00165315" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD-3" "empty follicle syndrome" "0000130180" "05450" "00165316" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD-3" "empty follicle syndrome" "0000130181" "05450" "00165317" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "OOMD-3" "empty follicle syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000166192" "00165314" "1" "00006" "00006" "2018-07-09 09:59:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000166193" "00165315" "1" "00006" "00006" "2018-07-09 10:05:35" "" "" "SEQ" "DNA" "" "" "0000166194" "00165316" "1" "00006" "00006" "2018-07-09 10:08:32" "" "" "SEQ" "DNA" "" "" "0000166195" "00165317" "1" "00006" "00006" "2018-07-09 10:10:23" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000166192" "ZP3" "0000166193" "ZP3" "0000166194" "ZP3" "0000166195" "ZP3" ## 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 = 7 "{{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}}" "0000331634" "0" "50" "7" "76069666" "76069668" "del" "0" "01804" "ZP3_000002" "g.76069666_76069668del" "" "" "" "ZP3(NM_001110354.1):c.923+3_923+5del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76440349_76440351del" "" "VUS" "" "0000371869" "11" "90" "7" "76058919" "76058919" "subst" "0" "00006" "ZP3_000003" "g.76058919G>A" "" "{PMID:Chen 2017:28886344}" "" "" "not in 800 control chromosomes; mapped by linkage, max LOD 2.35" "Germline" "yes" "" "0" "" "" "g.76429602G>A" "" "pathogenic (dominant)" "" "0000371870" "11" "90" "7" "76058919" "76058919" "subst" "0" "00006" "ZP3_000003" "g.76058919G>A" "" "{PMID:Chen 2017:28886344}" "" "" "different allele compared to family A" "Germline" "yes" "" "0" "" "" "g.76429602G>A" "" "pathogenic (dominant)" "" "0000371872" "0" "90" "7" "76058919" "76058919" "subst" "0" "00006" "ZP3_000003" "g.76058919G>A" "" "{PMID:Chen 2017:28886344}" "" "" "" "De novo" "" "" "0" "" "" "g.76429602G>A" "" "pathogenic (dominant)" "" "0000371873" "0" "90" "7" "76058919" "76058919" "subst" "0" "00006" "ZP3_000003" "g.76058919G>A" "" "{PMID:Chen 2017:28886344}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.76429602G>A" "" "pathogenic (dominant)" "" "0000532676" "0" "90" "7" "76069618" "76069618" "del" "0.000471393" "01943" "SRCRB4D_000002" "g.76069618del" "" "" "" "ZP3(NM_007155.5):c.730delG (p.E244Nfs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76440301del" "" "pathogenic" "" "0000929377" "0" "50" "7" "76062902" "76062902" "subst" "0" "02325" "SRCRB4D_000003" "g.76062902C>G" "" "" "" "ZP3(NM_001110354.2):c.651C>G (p.C217W)" "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 ZP3 ## Count = 7 "{{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}}" "0000331634" "00023766" "50" "923" "8" "923" "10" "c.923+8_923+10del" "r.(=)" "p.(=)" "" "0000371869" "00023766" "90" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Ala134Thr)" "2" "0000371870" "00023766" "90" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Ala134Thr)" "2" "0000371872" "00023766" "90" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Ala134Thr)" "2" "0000371873" "00023766" "90" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Ala134Thr)" "2" "0000532676" "00023766" "90" "883" "0" "883" "0" "c.883del" "r.(?)" "p.(Glu295AsnfsTer46)" "" "0000929377" "00023766" "50" "651" "0" "651" "0" "c.651C>G" "r.(?)" "p.(Cys217Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000166192" "0000371869" "0000166193" "0000371870" "0000166194" "0000371872" "0000166195" "0000371873"