### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASB12) # 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}}" "ASB12" "ankyrin repeat and SOCS box containing 12" "X" "q11.1" "unknown" "NG_012823.2" "UD_132118445127" "" "https://www.LOVD.nl/ASB12" "" "1" "19763" "142689" "300891" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ASB12_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2018-07-30 13:12:20" "00000" "2024-04-19 20:27:30" ## 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}}" "00002955" "ASB12" "ankyrin repeat and SOCS box containing 12" "001" "NM_130388.3" "" "NP_569059.3" "" "" "" "-193" "1100" "957" "63450511" "63444072" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00172979" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172980" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172981" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00172979" "00187" "00172980" "00187" "00172981" "00187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000137843" "00187" "00172979" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137844" "00187" "00172980" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137845" "00187" "00172981" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" ## 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}}" "0000173862" "00172979" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173863" "00172980" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173864" "00172981" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000173862" "AMOT" "0000173863" "AMOT" "0000173864" "AMOT" ## 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}}" "0000256264" "0" "50" "X" "63445517" "63445517" "subst" "0" "01943" "ASB12_000004" "g.63445517A>C" "" "" "" "ASB12(NM_130388.3):c.14T>G (p.L5R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64225637A>C" "" "VUS" "" "0000256394" "0" "50" "X" "63445411" "63445411" "subst" "0" "01943" "ASB12_000005" "g.63445411A>T" "" "" "" "ASB12(NM_130388.3):c.120T>A (p.N40K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64225531A>T" "" "VUS" "" "0000263020" "0" "50" "X" "63444307" "63444307" "subst" "5.61877E-6" "01943" "ASB12_000001" "g.63444307G>A" "" "" "" "ASB12(NM_130388.3):c.865C>T (p.R289C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64224427G>A" "" "VUS" "" "0000334414" "0" "50" "X" "63445089" "63445089" "subst" "7.31694E-5" "01804" "ASB12_000003" "g.63445089G>A" "" "" "" "ASB12(NM_130388.3):c.442C>T (p.(Arg148Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64225209G>A" "" "VUS" "" "0000394101" "1" "30" "X" "63445459" "63445459" "subst" "0.0181473" "00124" "ASB12_000006" "g.63445459G>A" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "45C>T (P15P)" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.64225579G>A" "" "likely benign" "" "0000394102" "1" "50" "X" "63444792" "63444792" "subst" "0.00118837" "00124" "ASB12_000007" "g.63444792C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "712G>T (G238C)" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.64224912C>A" "" "VUS" "" "0000394103" "1" "30" "X" "63444712" "63444712" "subst" "0.0039052" "00124" "ASB12_000008" "g.63444712G>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "792C>A (A264A)" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.64224832G>T" "" "likely benign" "" "0000576908" "0" "30" "X" "63444860" "63444860" "subst" "0.000300921" "01943" "ASB12_000009" "g.63444860C>T" "" "" "" "ASB12(NM_130388.3):c.671G>A (p.R224H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64224980C>T" "" "likely benign" "" "0000576909" "0" "30" "X" "63444939" "63444939" "subst" "0.000477909" "01943" "ASB12_000010" "g.63444939G>A" "" "" "" "ASB12(NM_130388.3):c.592C>T (p.R198C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64225059G>A" "" "likely benign" "" "0000619757" "0" "30" "X" "63445033" "63445033" "subst" "0.000366774" "01943" "ASB12_000011" "g.63445033G>A" "" "" "" "ASB12(NM_130388.3):c.498C>T (p.N166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64225153G>A" "" "likely benign" "" "0000619758" "0" "30" "X" "63445393" "63445393" "subst" "0.000161025" "01943" "ASB12_000013" "g.63445393G>A" "" "" "" "ASB12(NM_130388.3):c.138C>T (p.N46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64225513G>A" "" "likely benign" "" "0000624682" "0" "50" "X" "63445205" "63445205" "subst" "0" "01943" "ASB12_000012" "g.63445205G>A" "" "" "" "ASB12(NM_130388.3):c.326C>T (p.P109L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64225325G>A" "" "VUS" "" "0000729103" "0" "50" "X" "63444726" "63444726" "del" "0" "01943" "ASB12_000014" "g.63444726del" "" "" "" "ASB12(NM_130388.3):c.806delT (p.L269Cfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729104" "0" "50" "X" "63445305" "63445305" "subst" "1.16611E-5" "01943" "ASB12_000015" "g.63445305G>T" "" "" "" "ASB12(NM_130388.3):c.226C>A (p.P76T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984798" "0" "50" "X" "63444950" "63444950" "subst" "7.30707E-5" "01804" "ASB12_000016" "g.63444950A>T" "" "" "" "ASB12(NM_130388.4):c.581T>A (p.(Leu194Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984799" "0" "30" "X" "63445355" "63445355" "subst" "3.41557E-5" "01804" "ASB12_000017" "g.63445355C>T" "" "" "" "ASB12(NM_130388.4):c.176G>A (p.(Arg59His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 ASB12 ## 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}}" "0000256264" "00002955" "50" "14" "0" "14" "0" "c.14T>G" "r.(?)" "p.(Leu5Arg)" "" "0000256394" "00002955" "50" "120" "0" "120" "0" "c.120T>A" "r.(?)" "p.(Asn40Lys)" "" "0000263020" "00002955" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Arg289Cys)" "" "0000334414" "00002955" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Cys)" "" "0000394101" "00002955" "30" "72" "0" "72" "0" "c.72C>T" "r.(=)" "p.(=)" "" "0000394102" "00002955" "50" "739" "0" "739" "0" "c.739G>T" "r.(?)" "p.(Gly247Cys)" "" "0000394103" "00002955" "30" "819" "0" "819" "0" "c.819C>A" "r.(=)" "p.(=)" "" "0000576908" "00002955" "30" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Arg224His)" "" "0000576909" "00002955" "30" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Cys)" "" "0000619757" "00002955" "30" "498" "0" "498" "0" "c.498C>T" "r.(?)" "p.(Asn166=)" "" "0000619758" "00002955" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(Asn46=)" "" "0000624682" "00002955" "50" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Pro109Leu)" "" "0000729103" "00002955" "50" "806" "0" "806" "0" "c.806del" "r.(?)" "p.(Leu269Cysfs*18)" "" "0000729104" "00002955" "50" "226" "0" "226" "0" "c.226C>A" "r.(?)" "p.(Pro76Thr)" "" "0000984798" "00002955" "50" "581" "0" "581" "0" "c.581T>A" "r.(?)" "p.(Leu194Gln)" "" "0000984799" "00002955" "30" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000173862" "0000394101" "0000173863" "0000394102" "0000173864" "0000394103"