### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNF125) # 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}}" "RNF125" "ring finger protein 125, E3 ubiquitin protein ligase" "18" "q12.1" "unknown" "NC_000018.9" "UD_132378691791" "" "http://www.LOVD.nl/RNF125" "" "1" "21150" "54941" "610432" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/RNF125_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-12 14:33:48" "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}}" "00017897" "RNF125" "ring finger protein 125" "001" "NM_017831.3" "" "NP_060301.2" "" "" "" "-382" "5506" "699" "29598445" "29653154" "" "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}}" "00509" "OGS" "overgrowth syndrome" "" "" "" "" "" "00006" "2014-08-18 16:40:08" "00006" "2025-03-18 15:39:30" "04647" "TNORS" "Tenorio syndrome (TNORS)" "AD" "616260" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RNF125" "04647" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00019726" "" "" "" "1" "" "00762" "{PMID:Tenorio 2014:25196541}, {DOI:Tenorio 2014:10.1002/humu.22689}" "2-generation family, 1 affected" "M" "no" "Spain" "" "0" "" "" "white" "" "00019727" "" "" "" "1" "" "00762" "{PMID:Tenorio 2014:25196541}, {DOI:Tenorio 2014:10.1002/humu.22689}" "2-generation family, 1 affected" "M" "no" "Spain" "" "0" "" "" "white" "" "00019728" "" "" "" "2" "" "00762" "{PMID:Tenorio 2014:25196541}, {DOI:Tenorio 2014:10.1002/humu.22689}" "2-generation family, affected mother/daugther" "F" "no" "Spain" "" "0" "" "" "white" "" "00019729" "" "" "" "2" "" "00762" "{PMID:Tenorio 2014:25196541}, {DOI:Tenorio 2014:10.1002/humu.22689}" "2-generation family, affected mother/son" "M" "no" "Spain" "" "0" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00019726" "00509" "00019727" "00509" "00019728" "00509" "00019729" "00509" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00509, 04647 ## Count = 4 "{{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}}" "0000017532" "00509" "00019726" "00762" "Isolated (sporadic)" "" "non syndromic overgrowth" "" "" "" "" "" "" "" "" "" "0000017533" "00509" "00019727" "00762" "Isolated (sporadic)" "" "non syndromic overgrowth" "" "" "" "" "" "" "" "" "" "0000017534" "00509" "00019728" "00762" "Familial, autosomal dominant" "" "non syndromic overgrowth" "" "" "" "" "" "" "" "" "" "0000017535" "00509" "00019729" "00762" "Familial, autosomal dominant" "" "non syndromic overgrowth" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019712" "00019726" "1" "00762" "00762" "2014-08-06 16:29:50" "00762" "2014-08-18 11:42:41" "SEQ-NG" "DNA" "lymphocytes" "" "0000019713" "00019727" "1" "00762" "00762" "2014-08-06 16:38:24" "00006" "2014-08-15 08:36:21" "arraySNP" "DNA" "lymphocytes" "" "0000019714" "00019728" "1" "00762" "00762" "2014-08-06 16:42:05" "00006" "2014-08-15 08:41:58" "SEQ-NG" "DNA" "lymphocytes" "" "0000019715" "00019729" "1" "00762" "00762" "2014-08-06 16:46:43" "00006" "2014-08-15 08:43:06" "SEQ-NG" "DNA" "lymphocytes" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000019712" "RNF125" "0000019713" "RNF125" "0000019714" "RNF125" "0000019715" "RNF125" ## 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 = 18 "{{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}}" "0000040148" "0" "90" "18" "29625679" "29625679" "subst" "3.65767E-5" "00762" "RNF125_000001" "g.29625679C>T" "" "{PMID:Tenorio 2014:25196541}, {DOI:Tenorio 2014:10.1002/humu.22689}" "" "" "" "De novo" "?" "" "0" "" "" "g.32045716C>T" "" "pathogenic" "" "0000040149" "0" "90" "18" "24658770" "34038769" "del" "0" "00762" "RNF125_000002" "g.24658770_34038769del" "" "{PMID:Tenorio 2014:25196541}, {DOI:Tenorio 2014:10.1002/humu.22689}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "pathogenic" "" "0000040150" "0" "90" "18" "29645880" "29645880" "subst" "2.03136E-5" "00762" "RNF125_000003" "g.29645880C>T" "" "{PMID:Tenorio 2014:25196541}, {DOI:Tenorio 2014:10.1002/humu.22689}" "" "" "not in 600 control chromosomes or 350 Spanish exomes" "Germline" "yes" "" "0" "" "" "g.32065917C>T" "" "pathogenic" "" "0000040151" "21" "90" "18" "29622159" "29622159" "subst" "0" "00762" "RNF125_000004" "g.29622159G>A" "" "{PMID:Tenorio 2014:25196541}, {DOI:Tenorio 2014:10.1002/humu.22689}" "" "" "not in 600 control chromosomes or 350 Spanish exomes; mRNA expression reduced" "Germline" "yes" "" "0" "" "" "g.32042196G>A" "" "pathogenic" "" "0000564654" "0" "30" "18" "29598905" "29598905" "subst" "0.000102419" "01804" "RNF125_000005" "g.29598905G>A" "" "" "" "RNF125(NM_017831.3):c.79G>A (p.(Asp27Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32018942G>A" "" "likely benign" "" "0000564656" "0" "10" "18" "29645930" "29645930" "subst" "0.00418731" "01804" "RNF125_000007" "g.29645930A>T" "" "" "" "RNF125(NM_017831.3):c.570A>T (p.(Arg190Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32065967A>T" "" "benign" "" "0000564657" "0" "30" "18" "29648307" "29648307" "subst" "9.75776E-5" "01804" "RNF125_000008" "g.29648307G>A" "" "" "" "RNF125(NM_017831.3):c.659G>A (p.(Arg220Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32068344G>A" "" "likely benign" "" "0000829771" "0" "50" "18" "29625679" "29625679" "subst" "3.65767E-5" "03779" "RNF125_000001" "g.29625679C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs373764886" "0" "" "" "" "" "VUS" "" "0000865663" "0" "30" "18" "29598847" "29598847" "subst" "0.0372882" "01804" "RNF125_000009" "g.29598847C>T" "" "" "" "RNF125(NM_017831.3):c.21C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904119" "0" "70" "18" "29598907" "29598907" "subst" "9.01048E-5" "03779" "RNF125_000010" "g.29598907C>A" "" "" "" "" "" "Unknown" "" "rs776932441" "0" "" "" "" "" "likely pathogenic" "" "0000904120" "0" "30" "18" "29598907" "29598907" "subst" "9.01048E-5" "03779" "RNF125_000010" "g.29598907C>A" "" "" "" "" "" "Unknown" "" "rs776932441" "0" "" "" "" "" "likely benign" "" "0000983014" "0" "30" "18" "29648306" "29648306" "subst" "2.8459E-5" "01804" "RNF125_000011" "g.29648306C>T" "" "" "" "RNF125(NM_017831.4):c.658C>T (p.(Arg220Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004036" "0" "50" "18" "29598971" "29598971" "subst" "0" "01804" "RNF125_000012" "g.29598971C>T" "" "" "" "RNF125(NM_017831.3):c.145C>T (p.(Arg49Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004037" "0" "50" "18" "29598983" "29598983" "subst" "0" "01804" "RNF125_000013" "g.29598983G>A" "" "" "" "RNF125(NM_017831.3):c.157G>A (p.(Gly53Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004038" "0" "30" "18" "29625636" "29625636" "subst" "0.00088149" "01804" "RNF125_000014" "g.29625636T>G" "" "" "" "RNF125(NM_017831.3):c.445T>G (p.(Tyr149Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042403" "0" "30" "18" "29617079" "29617079" "subst" "0.000106517" "01804" "RNF125_000015" "g.29617079A>C" "" "" "" "RNF125(NM_017831.4):c.165A>C (p.(Val55=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042404" "0" "30" "18" "29617087" "29617087" "subst" "7.2559E-5" "01804" "RNF125_000016" "g.29617087G>A" "" "" "" "RNF125(NM_017831.4):c.173G>A (p.(Arg58His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042405" "0" "30" "18" "29647864" "29647864" "subst" "0" "01804" "RNF125_000017" "g.29647864C>T" "" "" "" "RNF125(NM_017831.4):c.613-397C>T" "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 RNF125 ## Count = 18 "{{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}}" "0000040148" "00017897" "90" "488" "0" "488" "0" "c.488C>T" "r.(=)" "p.(Ser163Leu)" "4" "0000040149" "00017897" "90" "-4940057" "0" "4391121" "0" "c.(?_-4940057)_(*4390422_?)del" "r.0" "p.0" "_1_6_" "0000040150" "00017897" "90" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Cys)" "5" "0000040151" "00017897" "90" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Met112Ile)" "3" "0000564654" "00017897" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Asp27Asn)" "" "0000564656" "00017897" "10" "570" "0" "570" "0" "c.570A>T" "r.(?)" "p.(Arg190Ser)" "" "0000564657" "00017897" "30" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000829771" "00017897" "50" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Ser163Leu)" "" "0000865663" "00017897" "30" "21" "0" "21" "0" "c.21C>T" "r.(?)" "p.(Thr7=)" "" "0000904119" "00017897" "70" "81" "0" "81" "0" "c.81C>A" "r.(?)" "p.(Asp27Glu)" "" "0000904120" "00017897" "30" "81" "0" "81" "0" "c.81C>A" "r.(?)" "p.(Asp27Glu)" "" "0000983014" "00017897" "30" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "" "0001004036" "00017897" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0001004037" "00017897" "50" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Gly53Ser)" "" "0001004038" "00017897" "30" "445" "0" "445" "0" "c.445T>G" "r.(?)" "p.(Tyr149Asp)" "" "0001042403" "00017897" "30" "165" "0" "165" "0" "c.165A>C" "r.(?)" "p.(=)" "" "0001042404" "00017897" "30" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58His)" "" "0001042405" "00017897" "30" "613" "-397" "613" "-397" "c.613-397C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000019712" "0000040148" "0000019713" "0000040149" "0000019714" "0000040150" "0000019715" "0000040151"