### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HNRNPR) # 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}}" "HNRNPR" "heterogeneous nuclear ribonucleoprotein R" "1" "p36.12" "unknown" "NC_000001.10" "UD_134711957027" "" "https://www.LOVD.nl/HNRNPR" "" "1" "5047" "10236" "607201" "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/HNRNPR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-05-21 22:01:04" "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}}" "00009521" "HNRNPR" "transcript variant 2" "003" "NM_005826.3" "" "NP_005817.1" "" "" "" "-159" "2573" "1902" "23670853" "23636276" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00235333" "" "" "" "1" "" "00006" "{PMID:Duijkers 2019:31079900}, {DOI:Duijkers 2019:10.1016/j.ajhg.2019.03.024}" "" "F" "" "" "" "0" "" "" "" "Pat1" "00235334" "" "" "" "1" "" "00006" "{PMID:Duijkers 2019:31079900}, {DOI:Duijkers 2019:10.1016/j.ajhg.2019.03.024}" "" "M" "" "" "" "0" "" "" "" "Pat2" "00235335" "" "" "" "1" "" "00006" "{PMID:Duijkers 2019:31079900}, {DOI:Duijkers 2019:10.1016/j.ajhg.2019.03.024}" "" "F" "" "" "" "0" "" "" "" "Pat3" "00235336" "" "" "" "1" "" "00006" "{PMID:Duijkers 2019:31079900}, {DOI:Duijkers 2019:10.1016/j.ajhg.2019.03.024}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00235337" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}, {PMID:Duijkers 2019:31079900}, {DOI:Duijkers 2019:10.1016/j.ajhg.2019.03.024}" "" "" "" "" "" "0" "" "" "" "Pat115 / Pat5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00235333" "00198" "00235334" "00198" "00235335" "00198" "00235336" "00198" "00235337" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 5 "{{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}}" "0000175595" "00198" "00235333" "00006" "Isolated (sporadic)" "12y" "see paper; …" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000175596" "00198" "00235334" "00006" "Isolated (sporadic)" "3y" "see paper; …" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000175597" "00198" "00235335" "00006" "Isolated (sporadic)" "10y" "see paper; …" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000175598" "00198" "00235336" "00006" "Isolated (sporadic)" "8y" "see paper; …" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000175599" "00198" "00235337" "00006" "Isolated (sporadic)" "" "see paper; …, epileptic encephalopathy, infantile Spasms; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000236438" "00235333" "1" "00006" "00006" "2019-05-21 22:19:08" "" "" "SEQ-NG" "DNA" "" "WES" "0000236439" "00235334" "1" "00006" "00006" "2019-05-21 22:19:08" "" "" "SEQ-NG" "DNA" "" "WES" "0000236440" "00235335" "1" "00006" "00006" "2019-05-21 22:19:08" "" "" "SEQ-NG" "DNA" "" "WES" "0000236441" "00235336" "1" "00006" "00006" "2019-05-21 22:19:08" "" "" "SEQ-NG" "DNA" "" "WES" "0000236442" "00235337" "1" "00006" "00006" "2019-05-21 22:19:08" "00006" "2020-06-05 14:52:33" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000236438" "HNRNPR" "0000236439" "HNRNPR" "0000236440" "HNRNPR" "0000236441" "HNRNPR" "0000236442" "HNRNPR" ## 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 = 17 "{{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}}" "0000320640" "0" "50" "1" "23637268" "23637268" "dup" "0" "01804" "HNRNPR_000001" "g.23637268dup" "" "" "" "HNRNPR(NM_001102397.1):c.1278_1279insT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23310775dup" "" "VUS" "" "0000480148" "0" "90" "1" "23637254" "23637254" "dup" "0" "00006" "HNRNPR_000002" "g.23637254dup" "" "{PMID:Duijkers 2019:31079900}, {DOI:Duijkers 2019:10.1016/j.ajhg.2019.03.024}" "" "NM_001102398.1:c.1609dupG" "" "De novo" "" "" "0" "" "" "g.23310761dup" "" "pathogenic (dominant)" "" "0000480149" "0" "90" "1" "23637210" "23637210" "dup" "0" "00006" "HNRNPR_000003" "g.23637210dup" "" "{PMID:Duijkers 2019:31079900}, {DOI:Duijkers 2019:10.1016/j.ajhg.2019.03.024}" "" "NM_001102398.1:c.1652dupG" "" "De novo" "" "" "0" "" "" "g.23310717dup" "" "pathogenic (dominant)" "" "0000480150" "0" "90" "1" "23637210" "23637210" "dup" "0" "00006" "HNRNPR_000003" "g.23637210dup" "" "{PMID:Duijkers 2019:31079900}, {DOI:Duijkers 2019:10.1016/j.ajhg.2019.03.024}" "" "NM_001102398.1:c.1652dupG" "" "De novo" "" "" "0" "" "" "g.23310717dup" "" "pathogenic (dominant)" "" "0000480151" "0" "90" "1" "23637095" "23637095" "subst" "0" "00006" "HNRNPR_000004" "g.23637095C>T" "" "{PMID:Duijkers 2019:31079900}, {DOI:Duijkers 2019:10.1016/j.ajhg.2019.03.024}" "" "NM_001102398.1:c.1763G>A" "" "De novo" "" "" "0" "" "" "g.23310602C>T" "" "pathogenic (dominant)" "" "0000480152" "0" "90" "1" "23637195" "23637195" "subst" "0" "00006" "HNRNPR_000005" "g.23637195G>A" "" "{PMID:Helbig 2016:26795593}, {PMID:Duijkers 2019:31079900}, {DOI:Duijkers 2019:10.1016/j.ajhg.2019.03.024}" "" "NM_001102398.1:c.1663C>T" "" "De novo" "" "" "0" "" "" "g.23310702G>A" "" "likely pathogenic (recessive)" "ACMG" "0000605446" "0" "30" "1" "23667354" "23667354" "subst" "0" "01943" "HNRNPR_000006" "g.23667354A>G" "" "" "" "HNRNPR(NM_001102398.2):c.148T>C (p.F50L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23340861A>G" "" "likely benign" "" "0000717299" "0" "70" "1" "23637210" "23637210" "dup" "0" "02329" "HNRNPR_000003" "g.23637210dup" "" "" "" "HNRNPR(NM_001102398.3):c.1652dupG (p.P552Sfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000910989" "0" "50" "1" "23667449" "23667449" "subst" "1.62829E-5" "02325" "HNRNPR_000007" "g.23667449G>T" "" "" "" "HNRNPR(NM_001102398.3):c.53C>A (p.P18Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923119" "0" "30" "1" "23640100" "23640100" "subst" "0" "02325" "HNRNPR_000008" "g.23640100C>T" "" "" "" "HNRNPR(NM_001102398.3):c.1122G>A (p.K374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973788" "0" "30" "1" "23665099" "23665099" "subst" "0.000337219" "01804" "HNRNPR_000009" "g.23665099A>G" "" "" "" "HNRNPR(NM_001102397.3):c.-144T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990995" "0" "50" "1" "23636976" "23636976" "subst" "0" "01804" "HNRNPR_000010" "g.23636976G>C" "" "" "" "HNRNPR(NM_005826.3):c.1873C>G (p.(Gln625Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990996" "0" "50" "1" "23637261" "23637261" "subst" "3.25402E-5" "01804" "HNRNPR_000011" "g.23637261A>T" "" "" "" "HNRNPR(NM_005826.3):c.1588T>A (p.(Ser530Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990997" "0" "30" "1" "23637479" "23637479" "subst" "0" "01804" "HNRNPR_000012" "g.23637479C>A" "" "" "" "HNRNPR(NM_001102397.1):c.1067G>T (p.(Gly356Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031840" "0" "30" "1" "23649530" "23649530" "subst" "0" "01804" "HNRNPR_000013" "g.23649530G>A" "" "" "" "HNRNPR(NM_005826.5):c.675+519C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031841" "0" "30" "1" "23655133" "23655133" "subst" "0" "01804" "HNRNPR_000014" "g.23655133C>T" "" "" "" "HNRNPR(NM_005826.5):c.498+4878G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031842" "0" "30" "1" "23664977" "23664977" "subst" "0" "01804" "HNRNPR_000015" "g.23664977C>T" "" "" "" "HNRNPR(NM_005826.5):c.276+6G>A" "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 HNRNPR ## Count = 17 "{{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}}" "0000320640" "00009521" "50" "1581" "0" "1581" "0" "c.1581dup" "r.(?)" "p.(Gly528TrpfsTer16)" "" "0000480148" "00009521" "90" "1600" "0" "1600" "0" "c.1600dup" "r.(?)" "p.(Ala534Glyfs*10)" "" "0000480149" "00009521" "90" "1643" "0" "1643" "0" "c.1643dup" "r.(?)" "p.(Pro549Serfs*34)" "" "0000480150" "00009521" "90" "1643" "0" "1643" "0" "c.1643dup" "r.(?)" "p.(Pro549Serfs*34)" "" "0000480151" "00009521" "90" "1754" "0" "1754" "0" "c.1754G>A" "r.(?)" "p.(Arg585His)" "" "0000480152" "00009521" "90" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Gln552*)" "5" "0000605446" "00009521" "30" "148" "0" "148" "0" "c.148T>C" "r.(?)" "p.(Phe50Leu)" "" "0000717299" "00009521" "70" "1643" "0" "1643" "0" "c.1643dup" "r.(?)" "p.(Pro549SerfsTer34)" "" "0000910989" "00009521" "50" "53" "0" "53" "0" "c.53C>A" "r.(?)" "p.(Pro18Gln)" "" "0000923119" "00009521" "30" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Lys371=)" "" "0000973788" "00009521" "30" "160" "0" "160" "0" "c.160T>C" "r.(?)" "p.(=)" "" "0000990995" "00009521" "50" "1873" "0" "1873" "0" "c.1873C>G" "r.(?)" "p.(Gln625Glu)" "" "0000990996" "00009521" "50" "1588" "0" "1588" "0" "c.1588T>A" "r.(?)" "p.(Ser530Thr)" "" "0000990997" "00009521" "30" "1370" "0" "1370" "0" "c.1370G>T" "r.(?)" "p.(Gly457Val)" "" "0001031840" "00009521" "30" "675" "519" "675" "519" "c.675+519C>T" "r.(=)" "p.(=)" "" "0001031841" "00009521" "30" "498" "4878" "498" "4878" "c.498+4878G>A" "r.(=)" "p.(=)" "" "0001031842" "00009521" "30" "276" "6" "276" "6" "c.276+6G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000236438" "0000480148" "0000236439" "0000480149" "0000236440" "0000480150" "0000236441" "0000480151" "0000236442" "0000480152"