### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AURKC) # 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}}" "AURKC" "aurora kinase C" "19" "q13.3-qter" "unknown" "NG_012134.1" "UD_132118914493" "" "https://www.LOVD.nl/AURKC" "" "1" "11391" "6795" "603495" "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/AURKC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-05 09:42:16" "00000" "2022-11-01 13:41:49" ## 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}}" "00025572" "AURKC" "transcript variant 1" "004" "NM_001015878.1" "" "NP_001015878.1" "" "" "" "-189" "1061" "930" "57742428" "57746916" "00006" "2020-11-05 09:36:55" "" "" ## 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" "01873" "SPGF5" "spermatogenic failure, type 5 (SPGF5)" "AR" "243060" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-05 09:41:44" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "AURKC" "00201" "AURKC" "01873" "AURKC" "05562" ## 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}}" "00317969" "" "" "" "1" "" "00006" "{PMID:Chianese 2015:25755131}" "" "M" "" "Morocco" "" "0" "" "" "" "CT154" "00317971" "" "" "" "1" "" "00006" "{PMID:Chianese 2015:25755131}" "" "M" "" "Morocco" "" "0" "" "" "" "11‐527" "00317972" "" "" "" "1" "" "00006" "{PMID:Chianese 2015:25755131}" "" "M" "" "Spain" "" "0" "" "" "" "12‐550" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00317969" "00201" "00317971" "00201" "00317972" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 01873, 05562 ## 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}}" "0000241752" "00201" "00317969" "00006" "Familial, autosomal recessive" "" "see paper; ..., macrocephalic sperm" "" "" "" "" "" "" "" "SPGF5" "" "0000241755" "00201" "00317971" "00006" "Familial, autosomal recessive" "" "see paper; ..., macrocephaelic sperm" "" "" "" "" "" "" "" "SPGF5" "" "0000241756" "00201" "00317972" "00006" "Familial, autosomal recessive" "" "see paper; ..., macrocephaelic sperm" "" "" "" "" "" "" "" "SPGF5" "" ## 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}}" "0000319150" "00317969" "1" "00006" "00006" "2020-11-05 09:46:09" "" "" "SEQ" "DNA" "" "" "0000319153" "00317971" "1" "00006" "00006" "2020-11-05 09:50:52" "" "" "SEQ" "DNA" "" "" "0000319154" "00317972" "1" "00006" "00006" "2020-11-05 09:52:52" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000319150" "AURKC" "0000319153" "AURKC" "0000319154" "AURKC" ## 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 = 8 "{{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}}" "0000259206" "0" "10" "19" "57742502" "57742511" "del" "0" "02325" "AURKC_000004" "g.57742502_57742511del" "" "" "" "AURKC(NM_001015878.2):c.-115_-106delAGGATTGGAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57231134_57231143del" "" "benign" "" "0000259207" "0" "10" "19" "57742497" "57742498" "del" "0" "02325" "AURKC_000003" "g.57742497_57742498del" "" "" "" "AURKC(NM_001015878.2):c.-120_-119delCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57231129_57231130del" "" "benign" "" "0000259208" "0" "10" "19" "57742489" "57742489" "subst" "0.83015" "02325" "AURKC_000002" "g.57742489C>T" "" "" "" "AURKC(NM_001015878.2):c.-128C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57231121C>T" "" "benign" "" "0000259209" "0" "10" "19" "57742472" "57742472" "subst" "0.870414" "02325" "AURKC_000001" "g.57742472G>C" "" "" "" "AURKC(NM_001015878.2):c.-145G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57231104G>C" "" "benign" "" "0000701799" "3" "90" "19" "57743441" "57743441" "del" "0" "00006" "AURKC_000005" "g.57743441del" "" "{PMID:Chianese 2015:25755131}" "" "144delC" "" "Germline" "" "" "0" "" "" "g.57232073del" "" "pathogenic (recessive)" "" "0000701801" "3" "90" "19" "57743441" "57743441" "del" "0" "00006" "AURKC_000005" "g.57743441del" "" "{PMID:Chianese 2015:25755131}" "" "144delC" "" "Germline" "" "" "0" "" "" "g.57232073del" "" "pathogenic (recessive)" "" "0000701802" "3" "90" "19" "57746411" "57746411" "subst" "0.000393931" "00006" "AURKC_000006" "g.57746411C>G" "" "{PMID:Chianese 2015:25755131}" "" "" "" "Germline" "" "" "0" "" "" "g.57235043C>G" "" "pathogenic (recessive)" "" "0000895146" "0" "90" "19" "57743441" "57743441" "del" "0" "02329" "AURKC_000005" "g.57743441del" "" "" "" "AURKC(NM_001015878.2):c.145delC (p.L49Wfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 AURKC ## Count = 8 "{{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}}" "0000259206" "00025572" "10" "-115" "0" "-106" "0" "c.-115_-106del" "r.(?)" "p.(=)" "" "0000259207" "00025572" "10" "-120" "0" "-119" "0" "c.-120_-119del" "r.(?)" "p.(=)" "" "0000259208" "00025572" "10" "-128" "0" "-128" "0" "c.-128C>T" "r.(?)" "p.(=)" "" "0000259209" "00025572" "10" "-145" "0" "-145" "0" "c.-145G>C" "r.(?)" "p.(=)" "" "0000701799" "00025572" "90" "145" "0" "145" "0" "c.145del" "r.(?)" "p.(Leu49Trpfs*23)" "" "0000701801" "00025572" "90" "145" "0" "145" "0" "c.145del" "r.(?)" "p.(Leu49Trpfs*23)" "" "0000701802" "00025572" "90" "744" "0" "744" "0" "c.744C>G" "r.(?)" "p.(Tyr248*)" "" "0000895146" "00025572" "90" "145" "0" "145" "0" "c.145del" "r.(?)" "p.(Leu49Trpfs*23)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000319150" "0000701799" "0000319153" "0000701801" "0000319154" "0000701802"