### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RARA) # 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}}" "RARA" "retinoic acid receptor, alpha" "17" "q21.1" "unknown" "NC_000017.10" "UD_132084405953" "" "https://www.LOVD.nl/RARA" "" "1" "9864" "5914" "180240" "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/RARA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-04-28 14:24:01" "00006" "2026-04-28 15:35:22" ## 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}}" "00017432" "RARA" "transcript variant 1" "001" "NM_000964.3" "" "NP_000955.1" "" "" "" "-478" "2806" "1389" "38465423" "38513895" "" "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}}" "00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "03132" "APL" "leukemia, acute, promyelocytic" "SMo" "612376" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-04-28 14:26:46" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RARA" "03132" ## 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}}" "00478081" "" "" "" "1" "" "00006" "{PMID:Astofi 2021:34432867}" "" "F" "" "Italy" "" "0" "" "" "" "Pat1" "00478082" "" "" "" "1" "" "00006" "{PMID:Astofi 2021:34432867}" "" "" "" "Italy" "" "0" "" "" "" "Pat2" "00478083" "" "" "" "1" "" "00006" "{PMID:Sala-Torra 2022:35420676}" "" "M" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00478081" "03132" "00478082" "00908" "00478083" "00908" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00908, 03132 ## 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}}" "0000362691" "03132" "00478081" "00006" "-" "09y" "see paper; ..." "" "" "" "" "" "" "" "APL" "leukemia" "0000362692" "00908" "00478082" "00006" "-" "03y" "see paper;..." "" "" "" "" "" "" "" "AML" "leukemia" "0000362693" "00908" "00478083" "00006" "-" "39y" "see paper; ..., thrombocytopenia, easy bleeding, laboratory values consistent with diffuse intravascular coagulation" "" "" "" "" "" "" "" "AML" "leukemia" ## 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}}" "0000479728" "00478081" "1" "00006" "00006" "2026-04-28 14:58:41" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000479729" "00478082" "1" "00006" "00006" "2026-04-28 15:05:41" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000479730" "00478083" "1" "00006" "00006" "2026-04-28 15:22:19" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000479728" "RARA" "0000479729" "RARA" "0000479730" "RARA" ## 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 = 7 "{{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}}" "0000301379" "0" "70" "17" "38510572" "38510572" "subst" "0" "02326" "RARA_000001" "g.38510572C>T" "" "" "" "RARA(NM_000964.4):c.826C>T (p.R276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40354320C>T" "" "likely pathogenic" "" "0000713237" "0" "90" "17" "38510572" "38510572" "subst" "0" "03779" "RARA_000001" "g.38510572C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs786205678" "0" "" "" "" "" "pathogenic" "" "0001003180" "0" "50" "17" "38487588" "38487588" "subst" "2.03963E-5" "01804" "RARA_000002" "g.38487588G>C" "" "" "" "RARA(NM_000964.3):c.118G>C (p.(Ala40Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003181" "0" "30" "17" "38512459" "38512459" "subst" "7.22512E-6" "01804" "GJD3_000003" "g.38512459C>T" "" "" "" "RARA(NM_000964.3):c.1370C>T (p.(Pro457Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001075653" "0" "90" "17" "38490449" "38490464" "delins" "0" "00006" "RARA_000003" "g.38490449_38490464delinsN[1045]" "" "{PMID:Astofi 2021:34432867}" "" "" "inserted sequence resembles TTMV (Anelloviridae isolates from torque teno Mini virus 0.74-0.85 identity); variant not described in sufficient detail" "Somatic" "" "" "0" "" "" "g.40334197_40334212delinsN[1045]" "" "pathogenic (dominant)" "" "0001075656" "0" "90" "17" "38487649" "38489986" "ins" "0" "00006" "RARA_000004" "g.(38487649_38489986)insN[(328_?)]" "" "{PMID:Astofi 2021:34432867}" "" "" "inserted sequence resembles TTMV (Anelloviridae isolates from torque teno Mini virus 0.74-0.85 identity); variant not described in sufficient detail" "Somatic" "" "" "0" "" "" "g.(40331397_40333734)insN[(328_?)]" "" "pathogenic (dominant)" "" "0001075659" "0" "90" "17" "38494341" "38494342" "delins" "0" "00006" "RARA_000005" "g.38494341_38494342delinsN[(2450)]" "" "{PMID:Sala-Torra 2022:35420676}" "" "" "inserted sequence resembles TTMV (torque teno Mini virus thrombocytopenia, easy bleeding, and laboratory values consistent with diffuse intravascular coagulation 0.93 identity); variant not described in sufficient detail" "Somatic" "" "" "0" "" "" "g.40338089_40338090delinsN[(2450)]" "" "pathogenic (dominant)" "" ## 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 RARA ## Count = 7 "{{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}}" "0000301379" "00017432" "70" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Trp)" "" "0000713237" "00017432" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Trp)" "" "0001003180" "00017432" "50" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Ala40Pro)" "" "0001003181" "00017432" "30" "1370" "0" "1370" "0" "c.1370C>T" "r.(?)" "p.(Pro457Leu)" "" "0001075653" "00017432" "90" "178" "2801" "178" "2816" "c.178+2801_178+2816delinsN[1045]" "r.178_179ins[N[209];178+2817_178+2854]" "p.?" "2i" "0001075656" "00017432" "90" "178" "1" "178" "2338" "c.(178+1_178+2338)insN[(328_?)]" "r.178_179ins[N[328];178+2339_178+2383]" "p.?" "2i" "0001075659" "00017432" "90" "178" "6693" "178" "6694" "c.178+6693_178+6694insN[(2450)]" "r.178_179ins[N[498];178+6730_178+6743]" "p.?" "2i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000479728" "0001075653" "0000479729" "0001075656" "0000479730" "0001075659"