### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACTL9) # 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}}" "ACTL9" "actin-like 9" "19" "p13.2" "unknown" "NC_000019.9" "UD_132446194462" "" "https://www.LOVD.nl/ACTL9" "" "1" "28494" "284382" "0" "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/ACTL9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-08 21:42:16" "00006" "2021-03-08 22:02:50" ## 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}}" "00002026" "ACTL9" "actin-like 9" "001" "NM_178525.3" "" "NP_848620.2" "" "" "" "-121" "1301" "1251" "8809172" "8807751" "" "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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "06928" "SPGF53" "spermatogenic failure, type 53" "AR" "619258" "" "" "" "00006" "2022-04-14 21:09:53" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ACTL9" "00201" "ACTL9" "06928" ## 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}}" "00335781" "" "" "" "1" "" "00006" "{PMID:Dai 2021:33626338}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam1" "00335782" "" "" "" "1" "" "00006" "{PMID:Dai 2021:33626338}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "China" "" "0" "" "" "" "Fam2" "00335783" "" "" "" "1" "" "00006" "{PMID:Dai 2021:33626338}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00335781" "00201" "00335782" "00201" "00335783" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 06928 ## 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}}" "0000253699" "00201" "00335781" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "infertility" "0000253700" "00201" "00335782" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "infertility" "0000253701" "00201" "00335783" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "infertility" ## 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}}" "0000337010" "00335781" "1" "00006" "00006" "2021-03-08 21:56:54" "" "" "SEQ-NG" "DNA" "" "WES" "0000337011" "00335782" "1" "00006" "00006" "2021-03-08 21:56:54" "" "" "SEQ-NG" "DNA" "" "WES" "0000337012" "00335783" "1" "00006" "00006" "2021-03-08 21:56:54" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000337010" "ACTL9" "0000337011" "ACTL9" "0000337012" "ACTL9" ## 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 = 3 "{{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}}" "0000736560" "3" "90" "19" "8808018" "8808018" "subst" "4.11106E-6" "00006" "ACTL9_000001" "g.8808018G>A" "" "{PMID:Dai 2021:33626338}" "" "" "" "Germline" "" "" "0" "" "" "g.8697668G>A" "" "pathogenic (recessive)" "" "0000736561" "3" "90" "19" "8807914" "8807914" "subst" "4.07349E-6" "00006" "ACTL9_000002" "g.8807914C>A" "" "{PMID:Dai 2021:33626338}" "" "" "" "Germline" "" "" "0" "" "" "g.8697564C>A" "" "pathogenic (recessive)" "" "0000736562" "3" "90" "19" "8807843" "8807843" "subst" "4.11845E-6" "00006" "ACTL9_000003" "g.8807843G>C" "" "{PMID:Dai 2021:33626338}" "" "" "" "Germline" "" "" "0" "" "" "g.8697493G>C" "" "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 ACTL9 ## Count = 3 "{{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}}" "0000736560" "00002026" "90" "1034" "0" "1034" "0" "c.1034C>T" "r.(?)" "p.(Ser345Leu)" "" "0000736561" "00002026" "90" "1138" "0" "1138" "0" "c.1138G>T" "r.(?)" "p.(Val380Leu)" "" "0000736562" "00002026" "90" "1209" "0" "1209" "0" "c.1209C>G" "r.(?)" "p.(Tyr403*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000337010" "0000736560" "0000337011" "0000736561" "0000337012" "0000736562"