### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RMI1) # 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}}" "RMI1" "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)" "9" "q22.1" "unknown" "NC_000009.11" "UD_136022563736" "" "https://www.LOVD.nl/RMI1" "" "1" "25764" "80010" "610404" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-05-03 09:47:07" "00000" "2025-11-01 13:22:20" ## 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}}" "00017806" "RMI1" "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)" "001" "NM_024945.2" "" "NP_079221.2" "" "" "" "-408" "3088" "1878" "86595637" "86618989" "" "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 = 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}}" "00449711" "" "" "" "2" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}, {DOI:Martin 2024:10.1016/j.ajhg.2024.04.008}" "2-generation family, 2 affected nephews, unaffected heterozygous parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam8Pat11" "00449712" "" "" "00449711" "1" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}, {DOI:Martin 2024:10.1016/j.ajhg.2024.04.008}" "nephew" "F" "yes" "Turkey" "" "0" "" "" "" "Fam8Pat12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00449711" "00198" "00449712" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 2 "{{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}}" "0000338882" "00198" "00449711" "00006" "Familial, autosomal recessive" ">18y" "see paper; ..., no prenatal-onset growth restriction; no elevated sister chromatid exchange; mitochondrial DNA depletion muscle (>0.80); progressive external ophthalmoplegia, ataxia; postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "" "microcephalic dwarfism" "" "0000338883" "00198" "00449712" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., prenatal-onset growth restriction; no café-au-lait macules; mild developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "" "microcephalic dwarfism" "" ## 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}}" "0000451302" "00449711" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451303" "00449712" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 21 "{{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}}" "0000250526" "0" "90" "9" "86585650" "86585650" "subst" "0" "02329" "HNRNPK_000001" "g.86585650A>G" "" "" "" "HNRNPK(NM_002140.5):c.1191+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83970735A>G" "" "pathogenic" "" "0000289147" "0" "50" "9" "86590381" "86590381" "subst" "0" "01943" "HNRNPK_000002" "g.86590381C>T" "" "" "" "HNRNPK(NM_002140.4):c.253G>A (p.E85K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83975466C>T" "" "VUS" "" "0000538596" "0" "70" "9" "86586606" "86586606" "subst" "0" "02327" "HNRNPK_000004" "g.86586606C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83971691C>T" "" "likely pathogenic" "" "0000538597" "0" "30" "9" "86586955" "86586955" "subst" "0" "01943" "HNRNPK_000005" "g.86586955A>G" "" "" "" "HNRNPK(NM_002140.4):c.795T>C (p.P265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83972040A>G" "" "likely benign" "" "0000538598" "0" "70" "9" "86590426" "86590426" "subst" "0" "02327" "HNRNPK_000006" "g.86590426T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83975511T>C" "" "likely pathogenic" "" "0000538599" "0" "50" "9" "86592624" "86592624" "subst" "0" "01943" "HNRNPK_000007" "g.86592624G>A" "" "" "" "HNRNPK(NM_002140.4):c.136C>T (p.R46C), HNRNPK(NM_002140.5):c.136C>T (p.R46C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83977709G>A" "" "VUS" "" "0000722580" "0" "50" "9" "86592653" "86592653" "subst" "4.07707E-6" "01943" "HNRNPK_000015" "g.86592653G>C" "" "" "" "HNRNPK(NM_002140.4):c.107C>G (p.S36C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852322" "0" "50" "9" "86586235" "86586235" "subst" "1.21857E-5" "02325" "HNRNPK_000016" "g.86586235T>C" "" "" "" "HNRNPK(NM_002140.5):c.1045A>G (p.I349V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965515" "0" "30" "9" "86586259" "86586259" "subst" "4.87476E-5" "02325" "HNRNPK_000017" "g.86586259C>T" "" "" "" "HNRNPK(NM_002140.5):c.1021G>A (p.A341T), HNRNPK(NM_031263.2):c.1021G>A (p.(Ala341Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978779" "0" "50" "9" "86585084" "86585084" "subst" "0" "01804" "HNRNPK_000018" "g.86585084G>A" "" "" "" "HNRNPK(NM_031263.4):c.1354C>T (p.(Gln452*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978781" "0" "30" "9" "86587767" "86587767" "subst" "1.72897E-5" "01804" "HNRNPK_000020" "g.86587767T>C" "" "" "" "HNRNPK(NM_031263.4):c.637A>G (p.(Ile213Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978782" "0" "30" "9" "86593366" "86593366" "subst" "0" "01804" "HNRNPK_000021" "g.86593366G>A" "" "" "" "HNRNPK(NM_031263.4):c.-106C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978783" "0" "30" "9" "86615956" "86615956" "subst" "0.000912112" "01804" "HNRNPK_000022" "g.86615956C>T" "" "" "" "RMI1(NM_001358291.2):c.55C>T (p.(His19Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978784" "0" "50" "9" "86616711" "86616711" "del" "0" "01804" "HNRNPK_000023" "g.86616711del" "" "" "" "RMI1(NM_001358291.2):c.810del (p.(Thr271GlnfsTer36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985135" "3" "90" "9" "86617156" "86617160" "del" "0" "00006" "RMI1_000001" "g.86617156_86617160del" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}, {DOI:Martin 2024:10.1016/j.ajhg.2024.04.008}" "" "" "" "Germline" "" "" "0" "" "" "g.84002241_84002245del" "" "pathogenic (recessive)" "" "0000985136" "3" "90" "9" "86617156" "86617160" "del" "0" "00006" "RMI1_000001" "g.86617156_86617160del" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}, {DOI:Martin 2024:10.1016/j.ajhg.2024.04.008}" "" "" "" "Germline" "" "" "0" "" "" "g.84002241_84002245del" "" "pathogenic (recessive)" "" "0000997977" "0" "30" "9" "86586259" "86586259" "subst" "4.87476E-5" "01804" "HNRNPK_000017" "g.86586259C>T" "" "" "" "HNRNPK(NM_002140.5):c.1021G>A (p.A341T), HNRNPK(NM_031263.2):c.1021G>A (p.(Ala341Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997978" "0" "70" "9" "86592624" "86592624" "subst" "0" "02325" "HNRNPK_000007" "g.86592624G>A" "" "" "" "HNRNPK(NM_002140.4):c.136C>T (p.R46C), HNRNPK(NM_002140.5):c.136C>T (p.R46C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037593" "0" "30" "9" "86616443" "86616443" "subst" "0.000656982" "01804" "HNRNPK_000024" "g.86616443T>C" "" "" "" "RMI1(NM_001358291.2):c.542T>C (p.(Leu181Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046213" "0" "50" "9" "86588263" "86588263" "subst" "0" "02326" "HNRNPK_000025" "g.86588263G>A" "" "" "" "HNRNPK(NM_002140.4):c.454C>T (p.H152Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053274" "0" "30" "9" "86593370" "86593370" "subst" "0" "01804" "HNRNPK_000026" "g.86593370A>G" "" "" "" "HNRNPK(NM_031263.4):c.-107-3T>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 RMI1 ## Count = 21 "{{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}}" "0000250526" "00017806" "90" "-10395" "0" "-10395" "0" "c.-10395A>G" "r.(?)" "p.(=)" "" "0000289147" "00017806" "50" "-5664" "0" "-5664" "0" "c.-5664C>T" "r.(?)" "p.(=)" "" "0000538596" "00017806" "70" "-9439" "0" "-9439" "0" "c.-9439C>T" "r.(?)" "p.(=)" "" "0000538597" "00017806" "30" "-9090" "0" "-9090" "0" "c.-9090A>G" "r.(?)" "p.(=)" "" "0000538598" "00017806" "70" "-5619" "0" "-5619" "0" "c.-5619T>C" "r.(?)" "p.(=)" "" "0000538599" "00017806" "50" "-3421" "0" "-3421" "0" "c.-3421G>A" "r.(?)" "p.(=)" "" "0000722580" "00017806" "50" "-3392" "0" "-3392" "0" "c.-3392G>C" "r.(?)" "p.(=)" "" "0000852322" "00017806" "50" "-9810" "0" "-9810" "0" "c.-9810T>C" "r.(?)" "p.(=)" "" "0000965515" "00017806" "30" "-9786" "0" "-9786" "0" "c.-9786C>T" "r.(?)" "p.(=)" "" "0000978779" "00017806" "50" "-10961" "0" "-10961" "0" "c.-10961G>A" "r.(?)" "p.(=)" "" "0000978781" "00017806" "30" "-8278" "0" "-8278" "0" "c.-8278T>C" "r.(?)" "p.(=)" "" "0000978782" "00017806" "30" "-2679" "0" "-2679" "0" "c.-2679G>A" "r.(?)" "p.(=)" "" "0000978783" "00017806" "30" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(His19Tyr)" "" "0000978784" "00017806" "50" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Thr271Glnfs*36)" "" "0000985135" "00017806" "90" "1255" "0" "1259" "0" "c.1255_1259del" "r.(?)" "p.(Lys419LeufsTer5)" "" "0000985136" "00017806" "90" "1255" "0" "1259" "0" "c.1255_1259del" "r.(?)" "p.(Lys419LeufsTer5)" "" "0000997977" "00017806" "30" "-9786" "0" "-9786" "0" "c.-9786C>T" "r.(?)" "p.(=)" "" "0000997978" "00017806" "70" "-3421" "0" "-3421" "0" "c.-3421G>A" "r.(?)" "p.(=)" "" "0001037593" "00017806" "30" "542" "0" "542" "0" "c.542T>C" "r.(?)" "p.(Leu181Ser)" "" "0001046213" "00017806" "50" "-7782" "0" "-7782" "0" "c.-7782G>A" "r.(?)" "p.(=)" "" "0001053274" "00017806" "30" "-2675" "0" "-2675" "0" "c.-2675A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000451302" "0000985135" "0000451303" "0000985136"