### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASCC1) # 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}}" "ASCC1" "activating signal cointegrator 1 complex subunit 1" "10" "q22.1" "unknown" "NG_031890.1" "UD_136085663286" "" "https://www.LOVD.nl/ASCC1" "" "1" "24268" "51008" "614215" "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/ASCC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-09 15:59:12" "00006" "2024-09-27 15:28:01" ## 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}}" "00025947" "ASCC1" "transcript variant 2 (expired, new version available) (expired, new version available) (expired, new version available)" "002" "NM_001198800.3" "" "NP_001185729.1" "" "" "MANE select" "-268" "2376" "1074" "73976199" "73855790" "00006" "2024-09-27 15:04:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "03591" "Barrett esophagus" "Barrett esophagus / esophageal adenocarcinoma" "" "614266" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-27 15:02:43" "05453" "SMABF2" "atrophy, muscular, spinal, with congenital bone fractures, type 2 (SMABF2)" "AR" "616867" "" "autosomal recessive" "" "00006" "2018-07-09 15:52:08" "00006" "2020-03-03 16:18:21" "05455" "SMABF" "atrophy, muscular, spinal, with congenital bone fractures (SMABF)" "" "" "" "" "" "00006" "2018-07-09 15:54:20" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ASCC1" "03591" "ASCC1" "05453" "ASCC1" "05455" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00165319" "" "" "" "1" "" "01850" "{PMID:Böhm 2019:30327447}" "" "F" "yes" "Morocco" "00y00m13d" "0" "" "" "" "Fam2" "00165320" "" "" "" "3" "" "01850" "{PMID:Böhm 2019:30327447}" "2-feneration family, 3 affected sibs, unaffected heterozygous carrier parents" "-" "yes" "Sri Lanka" "00y00m01d" "0" "" "" "" "Fam3" "00289322" "" "" "" "2" "" "00006" "{PMID:Orloff 2011:21791690}" "" "" "" "United States" "" "0" "" "" "" "" "00289327" "" "" "" "2" "" "00006" "{PMID:Knierim 2016:26924529}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "" "Turkey" "" "0" "" "" "" "FamD" "00289328" "" "" "" "2" "" "01850" "{PMID:Böhm 2019:30327447}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Tunisia" "" "0" "" "" "" "Fam1PatII1/2" "00289329" "" "" "" "1" "" "00006" "{PMID:Giuffrida 2020:31880396}" "2-generation family, stillborn infant, unaffected heterozygous carrier parents" "" "no" "Italy" "00y00m00d" "0" "" "" "" "" "00289330" "" "" "" "3" "" "00503" "{PMID:Oliveira 2017:28218388}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F;M" "no" "Portugal" "" "0" "" "" "" "" "00289332" "" "" "" "4" "" "00006" "{PMID:Torices 2015:26503956}" "analysis 66 rheumatoid arthritis patients and 30 healthy controls" "" "" "Spain" "" "0" "" "" "" "cases" "00373788" "" "" "" "1" "" "03395" "" "" "F" "yes" "Bahrain" "00y01m" "" "" "" "" "" "00443812" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "prenatal indication abnormal ultrasound" "M" "" "Netherlands" "" "0" "" "" "" "Pat584" "00454778" "" "" "" "1" "" "02184" "" "" "M" "yes" "France" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00165319" "00244" "00165320" "00244" "00289322" "03591" "00289327" "00198" "00289328" "00244" "00289329" "00198" "00289330" "00198" "00289332" "00198" "00373788" "05453" "00443812" "00198" "00454778" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 03591, 05453, 05455 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000130183" "00244" "00165319" "01850" "Familial, autosomal recessive" "" "The patient presented with severe hypotonia, arthrogryposis, and femoral and humeral fractures, required cardiopulmonary resuscitation, and deceased at 13 days." "" "" "" "" "" "" "" "" "" "" "" "0000130184" "00244" "00165320" "01850" "Familial, autosomal recessive" "" "Patients presented with profound neonatal hypotonia, minimal respiratory effort, arthrogryposis, and multiple bone fractures, and deceased shortly after birth." "" "" "" "" "" "" "" "" "" "" "" "0000222952" "03591" "00289322" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Barrett esophagus/esophageal adenocarcinoma" "" "0000222957" "00198" "00289327" "00006" "Familial, autosomal recessive" "" "see paper; ..., prenatal-onset spinal muscular atrophy, multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, congenital bone fractures" "" "" "" "" "" "" "" "" "SMABF2" "" "" "0000222958" "00244" "00289328" "01850" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "SMABF2" "" "" "0000222959" "00198" "00289329" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "SMABF2" "" "" "0000222960" "00198" "00289330" "00503" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "SMABF2" "" "" "0000222962" "00198" "00289332" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "rheumatoid arthritis" "" "0000333089" "00198" "00443812" "00006" "Unknown" "" "arthrogryposis multiplex congenita, dysmorphic features" "" "" "" "" "" "" "" "" "SMABF2" "" "" "0000343398" "00198" "00454778" "02184" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SMABF2" "fetal akinesia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000166197" "00165319" "1" "01850" "01850" "2018-07-09 11:28:30" "" "" "PCR" "DNA" "" "" "0000166198" "00165320" "1" "01850" "01850" "2018-07-09 12:00:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000290492" "00289322" "1" "00006" "00006" "2020-03-03 16:14:30" "" "" "SEQ" "DNA" "" "12-gene panel" "0000290497" "00289327" "1" "00006" "00006" "2020-03-03 16:44:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290498" "00289328" "1" "01850" "00006" "2020-03-03 17:07:38" "" "" "SEQ" "DNA" "" "" "0000290499" "00289329" "1" "00006" "00006" "2020-03-03 17:14:29" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000290500" "00289330" "1" "00006" "00006" "2020-03-03 17:28:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290502" "00289332" "1" "00006" "00006" "2020-03-03 18:23:42" "" "" "SEQ" "DNA" "" "" "0000375021" "00373788" "1" "03395" "03395" "2021-05-19 22:00:49" "" "" "SEQ-NG" "DNA" "" "" "0000445309" "00443812" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "SEQ" "DNA" "" "" "0000456390" "00454778" "1" "02184" "02184" "2024-09-27 10:34:41" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000166197" "ASCC1" "0000166198" "ASCC1" "0000290492" "ASCC1" "0000290497" "ASCC1" "0000290498" "ASCC1" "0000290499" "ASCC1" "0000290500" "ASCC1" "0000290502" "ASCC1" "0000375021" "ASCC1" "0000456390" "ASCC1" ## 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 = 16 "{{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}}" "0000371884" "11" "70" "10" "73970546" "73970546" "dup" "0" "01850" "ASCC1_000003" "g.73970546dup" "" "{PMID:Böhm 2019:30327447}" "" "157dupG" "" "Germline" "yes" "" "0" "" "" "g.72210788dup" "" "pathogenic (recessive)" "" "0000371885" "21" "70" "10" "73956676" "73956676" "subst" "2.8468E-5" "01850" "ASCC1_000002" "g.73956676G>A" "" "{PMID:Böhm 2019:30327447}" "" "NM_001198799.2:c.466C>T" "" "Germline" "yes" "" "0" "" "" "g.72196918G>A" "" "pathogenic (recessive)" "" "0000371886" "3" "70" "10" "73956730" "73956730" "subst" "1.62649E-5" "01850" "ASCC1_000004" "g.73956730G>A" "" "{PMID:Böhm 2019:30327447}" "" "NM_001198799.2:c.412C>T" "" "Germline" "yes" "" "0" "" "" "g.72196972G>A" "" "pathogenic (recessive)" "" "0000647170" "0" "70" "10" "73892817" "73892817" "subst" "0.00116156" "00006" "ASCC1_000007" "g.73892817T>C" "2/95 cases" "{PMID:Orloff 2011:21791690}" "" "869A>G (Asn290Ser)" "not in 139 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.72133059T>C" "" "likely pathogenic (dominant)" "" "0000647175" "3" "90" "10" "73970546" "73970546" "dup" "0" "00006" "ASCC1_000003" "g.73970546dup" "" "{PMID:Knierim 2016:26924529}" "" "157dupG" "" "Germline" "yes" "" "0" "" "" "g.72210788dup" "" "pathogenic (recessive)" "" "0000647177" "3" "90" "10" "73970546" "73970546" "dup" "0" "01850" "ASCC1_000003" "g.73970546dup" "" "{PMID:Böhm 2019:30327447}" "" "157dupG" "" "Germline" "yes" "" "0" "" "" "g.72210788dup" "" "pathogenic (recessive)" "" "0000647178" "21" "90" "10" "73873192" "73936691" "del" "0" "00006" "ASCC1_000005" "g.(73862726_73873192)_(73936691_73956568)del" "" "{PMID:Giuffrida 2020:31880396}" "" "chr10:73873192-73936691del" "64 kb deletion" "Germline" "" "" "0" "" "" "g.(72102968_72113434)_(72176933_72196810)del" "" "pathogenic (recessive)" "" "0000647179" "11" "90" "10" "73887854" "73887854" "subst" "0" "00006" "ASCC1_000006" "g.73887854G>A" "" "{PMID:Giuffrida 2020:31880396}" "" "NM_001198799.2:c.1027C>T" "" "Germline" "" "" "0" "" "" "g.72128096G>A" "" "pathogenic (recessive)" "" "0000647180" "3" "90" "10" "73970546" "73970546" "dup" "0" "00503" "ASCC1_000003" "g.73970546dup" "" "{PMID:Oliveira 2017:28218388}" "" "157dupG" "" "Germline" "yes" "" "0" "" "" "g.72210788dup" "" "pathogenic (recessive)" "" "0000647183" "0" "50" "10" "73964243" "73964243" "subst" "0.0401073" "00006" "ANAPC16_000003" "g.73964243G>C" "4/66 cases" "{PMID:Torices 2015:26503956}" "" "S78*" "1/30 controls; associated with disease severity in rheumatoid arthritis; in exon present in 0.00-0.02 transcripts" "Germline" "" "rs11000217" "0" "" "" "g.72204485G>C" "" "association" "" "0000786027" "3" "70" "10" "73892873" "73892873" "subst" "0" "03395" "ASCC1_000008" "g.73892873C>T" "Variant not found in online data sets" "" "" "NM_001198799.2:c.897G>A" "ACMG/ClinGen:PM2_p, PVS1_m PM3_p, PP4" "Germline" "yes" "" "0" "" "" "g.72133115C>T" "" "VUS" "ACMG" "0000852567" "0" "10" "10" "73887894" "73887894" "subst" "0.00308797" "02326" "ANAPC16_000006" "g.73887894T>A" "" "" "" "ASCC1(NM_001369085.1):c.969A>T (p.E323D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889230" "0" "30" "10" "73892817" "73892817" "subst" "0.00116156" "02326" "ASCC1_000007" "g.73892817T>C" "" "" "" "ASCC1(NM_001369085.1):c.935A>G (p.N312S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925190" "0" "30" "10" "73887886" "73887886" "subst" "0.00165777" "02326" "ANAPC16_000007" "g.73887886T>C" "" "" "" "ASCC1(NM_001369085.1):c.977A>G (p.Y326C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952223" "0" "90" "10" "73921295" "73921295" "subst" "2.43736E-5" "00006" "ANAPC16_000001" "g.73921295C>T" "" "{PMID:Imafidon 2021:34136434}" "" "NM_001198799.2:c.710+1G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.72161537C>T" "" "pathogenic" "" "0001010054" "3" "70" "10" "73956585" "73956585" "subst" "0" "02184" "ASCC1_000009" "g.73956585A>G" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.72196827A>G" "" "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 ASCC1 ## Count = 16 "{{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}}" "0000371884" "00025947" "70" "157" "0" "157" "0" "c.157dup" "r.(?)" "p.(Glu53Glyfs*19)" "" "0000371885" "00025947" "70" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Arg128*)" "" "0000371886" "00025947" "70" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Ter)" "" "0000647170" "00025947" "70" "869" "0" "869" "0" "c.869A>G" "r.(?)" "p.(Asn290Ser)" "" "0000647175" "00025947" "90" "157" "0" "157" "0" "c.157dup" "r.(?)" "p.(Glu53Glyfs*19)" "" "0000647177" "00025947" "90" "157" "0" "157" "0" "c.157dup" "r.(?)" "p.(Glu53Glyfs*19)" "" "0000647178" "00025947" "90" "490" "-15259" "957" "14648" "c.(489+1_490-15259)_(957+14648_958-5518)del" "r.?" "p.?" "" "0000647179" "00025947" "90" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Arg315Ter)" "" "0000647180" "00025947" "90" "157" "0" "157" "0" "c.157dup" "r.(?)" "p.(Glu53Glyfs*19)" "" "0000647183" "00025947" "50" "213" "-961" "213" "-961" "c.213-961C>G" "r.(?)" "p.(?)" "" "0000786027" "00025947" "70" "813" "0" "813" "0" "c.813G>A" "r.(?)" "p.(Trp271*)" "" "0000852567" "00025947" "10" "903" "0" "903" "0" "c.903A>T" "r.(?)" "p.(Glu301Asp)" "" "0000889230" "00025947" "30" "869" "0" "869" "0" "c.869A>G" "r.(?)" "p.(Asn290Ser)" "" "0000925190" "00025947" "30" "911" "0" "911" "0" "c.911A>G" "r.(?)" "p.(Tyr304Cys)" "" "0000952223" "00025947" "90" "626" "1" "626" "1" "c.626+1G>A" "r.spl" "p.?" "" "0001010054" "00025947" "70" "473" "0" "473" "0" "c.473T>C" "r.?" "p.(Leu158Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000166197" "0000371884" "0000166197" "0000371885" "0000166198" "0000371886" "0000290492" "0000647170" "0000290497" "0000647175" "0000290498" "0000647177" "0000290499" "0000647178" "0000290499" "0000647179" "0000290500" "0000647180" "0000290502" "0000647183" "0000375021" "0000786027" "0000445309" "0000952223" "0000456390" "0001010054"