### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RGS3) # 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}}" "RGS3" "regulator of G-protein signaling 3" "9" "q32" "unknown" "NG_029512.1" "UD_132118899676" "" "https://www.LOVD.nl/RGS3" "" "1" "9999" "5998" "602189" "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/RGS3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-03-01 00:00:00" "00006" "2017-07-04 22:51:13" "00000" "2024-08-28 13:16:32" ## 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}}" "00024289" "RGS3" "transcript variant 6" "001" "NM_144488.5" "" "NP_652759.3" "" "" "" "-211" "4387" "3597" "116207009" "116360023" "00006" "2017-07-04 22:50:06" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "04300" "FANC" "Fanconi anemia (FANC)" "AD" "" "" "" "" "00006" "2015-07-19 11:40:38" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00106537" "" "" "" "1" "" "00006" "{PMID:Shamseldin 2012:22232082}" "4-generation family, healthy first cousin parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "22232082-Fam1Pat1" "00106538" "" "" "" "2" "" "00006" "{PMID:Shamseldin 2012:22232082}" "unaffected parents" "" "" "Saudi Arabia" "" "0" "" "" "" "22232082-Fam1p" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00106537" "04300" "00106538" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 04300 ## Count = 1 "{{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}}" "0000084342" "04300" "00106537" "00006" "Isolated (sporadic)" "2y6m" "fanconi anemia (FA)" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000107006" "00106537" "1" "00006" "00006" "2013-03-01 19:11:42" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000107007" "00106538" "1" "00006" "00006" "2013-03-01 19:11:42" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000107006" "MTBP" "0000107006" "RGS3" "0000107007" "MTBP" "0000107007" "RGS3" ## 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 = 8 "{{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}}" "0000172745" "3" "35" "9" "116346574" "116346574" "subst" "0.000141114" "00006" "RGS3_000001" "g.116346574C>A" "" "{PMID:Shamseldin 2012:22232082}" "" "" "exome analysis, homozygosity mapping" "Germline" "yes" "" "0" "" "" "g.113584294C>A" "" "likely benign" "" "0000172746" "1" "35" "9" "116346574" "116346574" "subst" "0.000141114" "00006" "RGS3_000001" "g.116346574C>A" "" "{PMID:Shamseldin 2012:22232082}" "" "" "" "Germline" "" "" "0" "" "" "g.113584294C>A" "" "likely benign" "" "0000332752" "0" "50" "9" "116356395" "116356395" "subst" "0" "01804" "RGS3_000002" "g.116356395G>T" "" "" "" "RGS3(NM_001276262.1):c.-182G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113594115G>T" "" "VUS" "" "0000690374" "0" "30" "9" "116346231" "116346231" "subst" "0.000495959" "01943" "RGS3_000006" "g.116346231C>T" "" "" "" "RGS3(NM_144488.5):c.2539C>T (p.P847S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690375" "0" "30" "9" "116356373" "116356373" "subst" "0.000122194" "01943" "RGS3_000007" "g.116356373G>A" "" "" "" "RGS3(NM_144489.3):c.174G>A (p.L58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803835" "0" "50" "9" "116245295" "116245296" "dup" "0" "01943" "RGS3_000008" "g.116245295_116245296dup" "" "" "" "RGS3(NM_001282923.1):c.93_94dupGT (p.Y32Cfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997450" "0" "30" "9" "116285250" "116285250" "subst" "0" "01804" "RGS3_000009" "g.116285250A>T" "" "" "" "RGS3(NM_144488.5):c.1799A>T (p.(Lys600Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997451" "0" "50" "9" "116346442" "116346442" "subst" "0" "01804" "RGS3_000010" "g.116346442G>A" "" "" "" "RGS3(NM_144488.5):c.2750G>A (p.(Ser917Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 RGS3 ## Count = 8 "{{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}}" "0000172745" "00024289" "35" "2882" "0" "2882" "0" "c.2882C>A" "r.(?)" "p.(Thr961Asn)" "21" "0000172746" "00024289" "35" "2882" "0" "2882" "0" "c.2882C>A" "r.(?)" "p.(Thr961Asn)" "21" "0000332752" "00024289" "50" "3081" "-315" "3081" "-315" "c.3081-315G>T" "r.(=)" "p.(=)" "" "0000690374" "00024289" "30" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Pro847Ser)" "" "0000690375" "00024289" "30" "3081" "-337" "3081" "-337" "c.3081-337G>A" "r.(=)" "p.(=)" "" "0000803835" "00024289" "50" "467" "-44" "467" "-43" "c.467-44_467-43dup" "r.(=)" "p.(=)" "" "0000997450" "00024289" "30" "1799" "0" "1799" "0" "c.1799A>T" "r.(?)" "p.(Lys600Met)" "" "0000997451" "00024289" "50" "2750" "0" "2750" "0" "c.2750G>A" "r.(?)" "p.(Ser917Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000107006" "0000172745" "0000107007" "0000172746"