### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DAB1) # 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}}" "DAB1" "disabled homolog 1 (Drosophila)" "1" "p32-p31" "unknown" "NG_046914.1" "UD_132319085231" "" "https://www.LOVD.nl/DAB1" "" "1" "2661" "1600" "603448" "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/DAB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-07-10 09:13:00" "00000" "2025-05-05 21:14:00" ## 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}}" "00001281" "DAB1" "disabled homolog 1 (Drosophila)" "001" "NM_021080.3" "" "NP_066566.3" "" "" "" "-674" "1906" "1668" "57463579" "58716211" "00000" "2012-09-13 13:23:27" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04167" "SCA" "ataxia, spinocerebellar (SCA)" "" "" "" "" "" "00006" "2014-12-24 11:54:32" "00006" "2015-12-08 23:59:30" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "06000" "SCA37" "Spinocerebellar ataxia 37" "AD" "615945" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DAB1" "06000" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00106687" "" "" "" "1" "" "00006" "reference haplotype" "" "" "" "" "" "0" "" "" "" "reference haplotype" "00165115" "" "" "" "18" "" "00006" "{PMID:Seixas 2017:28686858}" "4-generation family, 18 affecteds" "F;M" "" "Portugal" "" "0" "" "" "" "28686858-FamM1" "00450513" "" "" "" "2" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "family, affected father/daughter" "" "" "" "" "0" "" "" "" "F047.1" "00460901" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00460902" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00106687" "00000" "00165115" "04167" "00450513" "05356" "00460901" "00198" "00460902" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01157, 04167, 05356, 06000 ## Count = 4 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000130012" "04167" "00165115" "00006" "Familial, autosomal dominant" "64y" "dysarthria (HP:0001260), ataxia (HP:0001251 )" "30y" "" "dysarthria" "" "" "" "" "" "SCA-37" "ataxia, spinocerebellar" "" "0000339568" "05356" "00450513" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "SCA37" "ataxia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000107158" "00106687" "1" "00006" "00006" "2017-07-10 09:11:06" "" "" "PCR;SEQ" "DNA" "" "" "0000165990" "00165115" "1" "00006" "00006" "2018-06-26 22:22:18" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000452111" "00450513" "1" "00006" "00006" "2024-05-29 10:09:37" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000462533" "00460901" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000462534" "00460902" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000165990" "DAB1" "0000452111" "DAB1" "0000462533" "DAB1" "0000462534" "DAB1" ## 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 = 26 "{{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}}" "0000003440" "3" "50" "1" "58522420" "58522420" "subst" "0" "00037" "DAB1_000002" "g.58522420T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.58056748T>G" "" "VUS" "" "0000010296" "0" "50" "1" "58521721" "58521721" "del" "0" "00037" "DAB1_000006" "g.58521721del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.58056049del" "" "VUS" "" "0000011408" "3" "50" "1" "57664690" "57664690" "subst" "0" "00037" "DAB1_000005" "g.57664690G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57199017G>A" "" "VUS" "" "0000011409" "3" "50" "1" "57779573" "57779573" "subst" "0" "00037" "DAB1_000004" "g.57779573A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57313901A>G" "" "VUS" "" "0000011410" "3" "50" "1" "58522420" "58522420" "subst" "0" "00037" "DAB1_000002" "g.58522420T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.58056748T>G" "" "VUS" "" "0000172927" "1" "30" "1" "57832716" "57832790" "" "0" "00006" "DAB1_000007" "g.57832716_57832790TAAAA[15]" "" "reference allele" "" "" "" "Germline" "" "" "0" "" "" "g.57367044_57367118TAAAA[15]" "" "likely benign" "" "0000274734" "0" "50" "1" "57538089" "57538089" "subst" "0" "01943" "DAB1_000009" "g.57538089T>A" "" "" "" "DAB1(NM_021080.4):c.307-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57072416T>A" "" "VUS" "" "0000274735" "0" "70" "1" "57756635" "57756635" "subst" "0" "01943" "DAB1_000010" "g.57756635C>A" "" "" "" "DAB1(NM_021080.4):c.67+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57290963C>A" "" "likely pathogenic" "" "0000320840" "0" "50" "1" "57476352" "57476352" "subst" "0" "01804" "DAB1_000008" "g.57476352C>T" "" "" "" "DAB1(NM_021080.3):c.*15+1G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57010679C>T" "" "VUS" "" "0000369837" "10" "30" "1" "57832649" "57833846" "ins" "0" "00006" "DAB1_000011" "g.57832649_57833846insN[1935]" "" "{PMID:Seixas 2017:28686858}" "" "ATTTT[~400]" "" "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000369838" "10" "90" "1" "57832716" "57832790" "delins" "0" "00006" "DAB1_000012" "g.57832716_57832790delinsAAAAT[81]GAAAT[60]AAAAT[66]" "" "{PMID:Seixas 2017:28686858}" "" "ATTTT[66]ATTTC[60]ATTTT[81]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000508009" "0" "30" "1" "57480896" "57480896" "subst" "0.00252437" "01943" "DAB1_000013" "g.57480896G>A" "" "" "" "DAB1(NM_021080.4):c.1104C>T (p.P368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57015223G>A" "" "likely benign" "" "0000508011" "0" "30" "1" "57489239" "57489239" "subst" "0.015302" "01804" "DAB1_000015" "g.57489239C>T" "" "" "" "DAB1(NM_021080.3):c.860G>A (p.(Ser287Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57023566C>T" "" "likely benign" "" "0000508012" "0" "30" "1" "57537317" "57537317" "subst" "0.000576423" "01943" "DAB1_000016" "g.57537317G>A" "" "" "" "DAB1(NM_021080.4):c.439-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57071644G>A" "" "likely benign" "" "0000620676" "0" "30" "1" "57528551" "57528551" "subst" "0" "01943" "DAB1_000017" "g.57528551A>G" "" "" "" "DAB1(NM_021080.4):c.723+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57062878A>G" "" "likely benign" "" "0000620677" "0" "50" "1" "57537261" "57537261" "subst" "8.14007E-6" "01943" "DAB1_000018" "g.57537261C>A" "" "" "" "DAB1(NM_021080.4):c.492G>T (p.L164F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57071588C>A" "" "VUS" "" "0000675895" "0" "30" "1" "57489226" "57489226" "subst" "0.000310296" "01943" "DAB1_000019" "g.57489226G>A" "" "" "" "DAB1(NM_021080.4):c.873C>T (p.F291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688212" "0" "30" "1" "57480548" "57480548" "subst" "0.000128893" "01943" "DAB1_000020" "g.57480548G>T" "" "" "" "DAB1(NM_021080.4):c.1444+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848784" "0" "30" "1" "57602217" "57602217" "subst" "0" "01943" "DAB1_000022" "g.57602217C>T" "" "" "" "DAB1(NM_021080.4):c.305G>A (p.G102E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857556" "0" "30" "1" "57538035" "57538035" "subst" "0.000117955" "01943" "DAB1_000021" "g.57538035A>G" "" "" "" "DAB1(NM_021080.4):c.359T>C (p.I120T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883523" "0" "50" "1" "57481065" "57481065" "subst" "0" "02325" "DAB1_000023" "g.57481065C>T" "" "" "" "DAB1(NM_021080.5):c.935G>A (p.G312D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000986088" "2" "10" "1" "57832759" "57832793" "del" "0" "00006" "DAB1_000024" "g.57832759_57832793del" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "ATTTT[7]" "" "Germline" "" "" "0" "" "" "g.57367087_57367121del" "" "benign" "" "0000986089" "1" "90" "1" "57832716" "57832790" "delins" "0" "00006" "DAB1_000025" "g.57832716_57832790delinsAAAAT[29]GAAAT[117]AAAAT[615]" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "ATTTT[615]ATTTC[117]ATTTT[29]" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.57367044_57367118delinsAAAAT[29]GAAAT[117]AAAAT[615]" "" "pathogenic (dominant)" "" "0001022060" "0" "90" "1" "57756635" "57756635" "subst" "0" "04796" "DAB1_000010" "g.57756635C>A" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.57290963C>A" "" "pathogenic" "" "0001022061" "0" "50" "1" "57538089" "57538089" "subst" "0" "04796" "DAB1_000009" "g.57538089T>A" "" "" "" "" "effect on RNA exclusion of exon" "Germline/De novo (untested)" "" "" "0" "" "" "g.57072416T>A" "" "VUS" "" "0001032129" "0" "30" "1" "57528562" "57528562" "subst" "0.000459394" "01804" "DAB1_000026" "g.57528562C>G" "" "" "" "DAB1(NM_001353986.2):c.717+1G>C" "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 DAB1 ## Count = 26 "{{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}}" "0000003440" "00001281" "50" "-374" "-172586" "-374" "-172586" "c.-374-172586A>C" "r.(=)" "p.(=)" "" "0000010296" "00001281" "50" "-374" "-171887" "-374" "-171887" "c.-374-171887del" "r.(=)" "p.(=)" "" "0000011408" "00001281" "50" "68" "-53588" "68" "-53588" "c.68-53588C>T" "r.(=)" "p.(=)" "" "0000011409" "00001281" "50" "-136" "-22735" "-136" "-22735" "c.-136-22735T>C" "r.(=)" "p.(=)" "" "0000011410" "00001281" "50" "-374" "-172586" "-374" "-172586" "c.-374-172586A>C" "r.(=)" "p.(=)" "" "0000172927" "00001281" "30" "-136" "-75952" "-136" "-75878" "c.-136-75952_-136-75878ATTTT[15]" "r.(?)" "p.(=)" "3i" "0000274734" "00001281" "50" "307" "-2" "307" "-2" "c.307-2A>T" "r.spl?" "p.?" "" "0000274735" "00001281" "70" "67" "1" "67" "1" "c.67+1G>T" "r.spl?" "p.?" "" "0000320840" "00001281" "50" "1683" "1" "1683" "1" "c.*15+1G>A" "r.spl?" "p.?" "" "0000369837" "00001281" "30" "-136" "-77008" "-136" "-75811" "c.-136-77008_-136-75811ins(1935)" "r.(=)" "p.(=)" "3i" "0000369838" "00001281" "90" "-136" "-75952" "-136" "-75878" "c.-136-75952_-136-75878delinsATTTT[66]ATTTC[60]ATTTT[81]" "r.?" "p.?" "3i" "0000508009" "00001281" "30" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Pro368=)" "" "0000508011" "00001281" "30" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Ser287Asn)" "" "0000508012" "00001281" "30" "439" "-3" "439" "-3" "c.439-3C>T" "r.spl?" "p.?" "" "0000620676" "00001281" "30" "723" "6" "723" "6" "c.723+6T>C" "r.(=)" "p.(=)" "" "0000620677" "00001281" "50" "492" "0" "492" "0" "c.492G>T" "r.(?)" "p.(Leu164Phe)" "" "0000675895" "00001281" "30" "873" "0" "873" "0" "c.873C>T" "r.(?)" "p.(Phe291=)" "" "0000688212" "00001281" "30" "1444" "8" "1444" "8" "c.1444+8C>A" "r.(=)" "p.(=)" "" "0000848784" "00001281" "30" "305" "0" "305" "0" "c.305G>A" "r.(?)" "p.(Gly102Glu)" "" "0000857556" "00001281" "30" "359" "0" "359" "0" "c.359T>C" "r.(?)" "p.(Ile120Thr)" "" "0000883523" "00001281" "50" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Gly312Asp)" "" "0000986088" "00001281" "10" "-136" "-75912" "-136" "-75878" "c.-136-75912_-136-75878del" "r.(=)" "p.(=)" "3i" "0000986089" "00001281" "90" "-136" "-75952" "-136" "-75878" "c.-136-75952_-136-75878delinsATTTT[615]ATTTC[117]ATTTT[29]" "r.?" "p.?" "3i" "0001022060" "00001281" "70" "67" "1" "67" "1" "c.67+1G>T" "r.-136_67del" "p.0?" "2i" "0001022061" "00001281" "50" "307" "-2" "307" "-2" "c.307-2A>T" "r.307_316del" "p.Ala103_Gln106del" "4i" "0001032129" "00001281" "30" "718" "0" "718" "0" "c.718G>C" "r.(?)" "p.(Val240Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003440" "0000000210" "0000010296" "0000000210" "0000011408" "0000000210" "0000011409" "0000000210" "0000011410" "0000107158" "0000172927" "0000165990" "0000369837" "0000165990" "0000369838" "0000452111" "0000986088" "0000452111" "0000986089" "0000462533" "0001022060" "0000462534" "0001022061"