### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASB10) # 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}}" "ASB10" "ankyrin repeat and SOCS box containing 10" "7" "q35" "unknown" "NG_017016.1" "UD_132118660211" "" "https://www.LOVD.nl/ASB10" "" "1" "17185" "136371" "615054" "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/ASB10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-23 23:13:27" "00000" "2022-11-01 13:01:21" ## 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}}" "00002953" "ASB10" "transcript variant 3" "001" "NM_080871.3" "" "NP_543147.2" "" "" "" "-110" "1628" "1359" "150884919" "150872785" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "02451" "GLC1F" "glaucoma, open angle, type 1F (GLC-F)" "" "603383" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ASB10" "02451" ## 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}}" "00181193" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "Mother Spanish, father from Bangladesh" "75605" "00294370" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294371" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00181193" "00344" "00294370" "00198" "00294371" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 02451 ## Count = 1 "{{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}}" "0000144001" "00344" "00181193" "02552" "Unknown" "" "" "00y05m" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000182151" "00181193" "1" "02552" "02552" "2018-10-02 17:45:31" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000295538" "00294370" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295539" "00294371" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 22 "{{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}}" "0000263019" "0" "30" "7" "150884072" "150884072" "subst" "0.000181685" "01943" "ASB10_000001" "g.150884072C>T" "" "" "" "ASB10(NM_001142459.2):c.146G>A (p.R49H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151186985C>T" "" "likely benign" "" "0000406024" "21" "50" "7" "150878258" "150878258" "subst" "7.06191E-5" "02552" "ASB10_000002" "g.150878258T>C" "" "{PMID:Papuc 2019:30552426}" "" "NM_001142459.1:c.872A>G p.(Asp291Gly)" "" "Germline" "" "rs781304410" "0" "" "" "g.151181171T>C" "" "VUS" "" "0000531308" "0" "30" "7" "150883966" "150883966" "subst" "4.10317E-5" "02330" "ASB10_000003" "g.150883966A>G" "" "" "" "ASB10(NM_001142459.2):c.252T>C (p.D84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151186879A>G" "" "likely benign" "" "0000652227" "1" "50" "7" "150878052" "150878052" "subst" "0.000277673" "03575" "ASB10_000004" "g.150878052G>A" "6/2782 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 6 heterozygous, no homozygous; {DB:CLININrs104886484}" "Germline" "" "rs104886484" "0" "" "" "g.151180965G>A" "" "VUS" "" "0000652228" "1" "50" "7" "150878220" "150878220" "subst" "0.00303226" "03575" "ASB10_000005" "g.150878220G>A" "4/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 4 heterozygous, no homozygous; {DB:CLININrs61735130}" "Germline" "" "rs61735130" "0" "" "" "g.151181133G>A" "" "VUS" "" "0000678034" "0" "30" "7" "150878220" "150878220" "subst" "0.00303226" "01943" "ASB10_000005" "g.150878220G>A" "" "" "" "ASB10(NM_001142460.1):c.910C>T (p.R304C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721350" "0" "50" "7" "150873217" "150873217" "subst" "0" "02327" "ASB10_000006" "g.150873217A>C" "" "" "" "ASB10(NM_001142460.1):c.1272T>G (p.F424L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721351" "0" "30" "7" "150873238" "150873238" "subst" "0" "02330" "ASB10_000007" "g.150873238G>A" "" "" "" "ASB10(NM_001142460.1):c.1251C>T (p.L417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721352" "0" "30" "7" "150878019" "150878019" "subst" "0" "01943" "ASB10_000008" "g.150878019C>T" "" "" "" "ASB10(NM_001142460.1):c.1104+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721353" "0" "30" "7" "150878106" "150878106" "subst" "0.00500742" "01943" "ASB10_000009" "g.150878106G>A" "" "" "" "ASB10(NM_001142460.1):c.1024C>T (p.L342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721354" "0" "50" "7" "150878144" "150878144" "subst" "0.000794656" "01943" "ASB10_000010" "g.150878144G>A" "" "" "" "ASB10(NM_001142460.1):c.986C>T (p.T329M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721355" "0" "30" "7" "150878399" "150878399" "subst" "0.000399941" "01943" "ASB10_000011" "g.150878399C>T" "" "" "" "ASB10(NM_001142460.1):c.731G>A (p.R244H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721356" "0" "30" "7" "150878416" "150878416" "subst" "0.000371341" "01943" "ASB10_000012" "g.150878416C>T" "" "" "" "ASB10(NM_001142460.1):c.714G>A (p.G238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802999" "0" "50" "7" "150873217" "150873217" "subst" "0" "01943" "ASB10_000006" "g.150873217A>C" "" "" "" "ASB10(NM_001142460.1):c.1272T>G (p.F424L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803000" "0" "30" "7" "150878038" "150878038" "subst" "6.92956E-5" "01943" "ASB10_000013" "g.150878038C>A" "" "" "" "ASB10(NM_001142460.1):c.1092G>T (p.G364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803001" "0" "30" "7" "150878259" "150878259" "subst" "8.71746E-5" "01943" "ASB10_000014" "g.150878259C>T" "" "" "" "ASB10(NM_001142460.1):c.871G>A (p.D291N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803002" "0" "50" "7" "150884634" "150884634" "subst" "5.38808E-5" "01943" "ASB10_000015" "g.150884634A>G" "" "" "" "ASB10(NM_080871.3):c.176T>C (p.L59P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851523" "0" "30" "7" "150873298" "150873298" "subst" "1.67846E-5" "01943" "ASB10_000016" "g.150873298G>A" "" "" "" "ASB10(NM_001142460.1):c.1191C>T (p.S397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851524" "0" "30" "7" "150883742" "150883742" "subst" "0.000386718" "01943" "ASB10_000018" "g.150883742G>C" "" "" "" "ASB10(NM_001142460.1):c.321C>G (p.L107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860688" "0" "50" "7" "150883498" "150883498" "subst" "0.000994762" "01943" "ASB10_000017" "g.150883498G>A" "" "" "" "ASB10(NM_001142460.1):c.565C>T (p.R189W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860689" "0" "30" "7" "150884639" "150884639" "subst" "0.000545528" "01943" "ASB10_000019" "g.150884639C>T" "" "" "" "ASB10(NM_080871.3):c.171G>A (p.G57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887744" "0" "30" "7" "150878511" "150878511" "subst" "0.00129285" "02327" "ASB10_000020" "g.150878511C>G" "" "" "" "" "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 ASB10 ## Count = 22 "{{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}}" "0000263019" "00002953" "30" "272" "-326" "272" "-326" "c.272-326G>A" "r.(=)" "p.(=)" "" "0000406024" "00002953" "50" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asp276Gly)" "" "0000531308" "00002953" "30" "272" "-220" "272" "-220" "c.272-220T>C" "r.(=)" "p.(=)" "" "0000652227" "00002953" "50" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Arg345Cys)" "" "0000652228" "00002953" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Arg289Cys)" "" "0000678034" "00002953" "30" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Arg289Cys)" "" "0000721350" "00002953" "50" "1341" "0" "1341" "0" "c.1341T>G" "r.(?)" "p.(Phe447Leu)" "" "0000721351" "00002953" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(Leu440=)" "" "0000721352" "00002953" "30" "1059" "7" "1059" "7" "c.1059+7G>A" "r.(=)" "p.(=)" "" "0000721353" "00002953" "30" "979" "0" "979" "0" "c.979C>T" "r.(?)" "p.(Leu327=)" "" "0000721354" "00002953" "50" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Thr314Met)" "" "0000721355" "00002953" "30" "686" "0" "686" "0" "c.686G>A" "r.(?)" "p.(Arg229His)" "" "0000721356" "00002953" "30" "669" "0" "669" "0" "c.669G>A" "r.(?)" "p.(Gly223=)" "" "0000802999" "00002953" "50" "1341" "0" "1341" "0" "c.1341T>G" "r.(?)" "p.(Phe447Leu)" "" "0000803000" "00002953" "30" "1047" "0" "1047" "0" "c.1047G>T" "r.(?)" "p.(Gly349=)" "" "0000803001" "00002953" "30" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Asp276Asn)" "" "0000803002" "00002953" "50" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "" "0000851523" "00002953" "30" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(Ser420=)" "" "0000851524" "00002953" "30" "276" "0" "276" "0" "c.276C>G" "r.(?)" "p.(Leu92=)" "" "0000860688" "00002953" "50" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Trp)" "" "0000860689" "00002953" "30" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Gly57=)" "" "0000887744" "00002953" "30" "574" "0" "574" "0" "c.574G>C" "r.(?)" "p.(Val192Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000182151" "0000406024" "0000295538" "0000652227" "0000295539" "0000652228"