### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RFT1) # 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}}" "RFT1" "RFT1 homolog (S. cerevisiae)" "3" "p21.1" "unknown" "NG_009203.1" "UD_132118439158" "" "http://www.LOVD.nl/RFT1" "Congenital Disorder of Glycosylation pages " "1" "30220" "91869" "611908" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/RFT1_codingDNA.html" "1" "" "\"EuroglycanetCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-03-20 19:43:04" "00000" "2026-01-20 18:57:21" ## 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}}" "00017666" "RFT1" "RFT1 homolog (S. cerevisiae)" "001" "NM_052859.3" "" "NP_443091.1" "" "" "" "-54" "5046" "1626" "53164470" "53122499" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03078" "CDG1N" "glycosylation, congenital disorder of, type In (CDG-1N)" "AR" "612015" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RFT1" "00139" "RFT1" "03078" ## 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}}" "00293446" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307966" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "F" "" "" "" "0" "" "" "" "15DG0298" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00293446" "00198" "00307966" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03078 ## Count = 1 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000233389" "00139" "00307966" "00006" "Familial, autosomal recessive" "5d" "see paper; ..., Hypotonia, Hyporeflexia, Central hypotonia, Neonatal respiratory distress" "" "" "" "" "" "" "" "" "intellectual diability" "" ## 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}}" "0000294614" "00293446" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309110" "00307966" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000309110" "RFT1" ## 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 = 20 "{{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}}" "0000297659" "0" "10" "3" "53125922" "53125922" "subst" "0.562451" "02325" "RFT1_000001" "g.53125922T>C" "" "" "" "RFT1(NM_052859.4):c.1623A>G (p.T541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53091906T>C" "" "benign" "" "0000341190" "0" "50" "3" "53155810" "53155810" "subst" "0" "02327" "RFT1_000004" "g.53155810C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53121794C>A" "" "VUS" "" "0000608814" "0" "50" "3" "53126495" "53126495" "subst" "0.000153531" "01804" "RFT1_000006" "g.53126495T>C" "" "" "" "RFT1(NM_052859.3):c.1348A>G (p.(Ile450Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53092479T>C" "" "VUS" "" "0000608815" "0" "50" "3" "53126557" "53126557" "subst" "1.6589E-5" "01804" "RFT1_000007" "g.53126557A>G" "" "" "" "RFT1(NM_052859.3):c.1286T>C (p.(Val429Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53092541A>G" "" "VUS" "" "0000651303" "1" "50" "3" "53133472" "53133472" "subst" "0.000491478" "03575" "RFT1_000008" "g.53133472T>C" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs143232904}" "Germline" "" "rs143232904" "0" "" "" "g.53099456T>C" "" "VUS" "" "0000683573" "3" "70" "3" "53133451" "53133451" "subst" "0" "00006" "RFT1_000009" "g.53133451T>C" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PP1,PM2,PP3, PM1" "Germline" "" "" "0" "" "" "g.53099435T>C" "" "likely pathogenic (recessive)" "ACMG" "0000689127" "0" "30" "3" "53153890" "53153890" "subst" "0" "01943" "RFT1_000010" "g.53153890T>G" "" "" "" "RFT1(NM_052859.3):c.696+10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719556" "0" "50" "3" "53125985" "53125985" "subst" "6.50132E-5" "01943" "RFT1_000011" "g.53125985C>G" "" "" "" "RFT1(NM_052859.3):c.1560G>C (p.E520D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801331" "0" "70" "3" "53157739" "53157739" "subst" "4.0624E-6" "01943" "RFT1_000012" "g.53157739C>T" "" "" "" "RFT1(NM_052859.3):c.266+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801332" "0" "30" "3" "53164387" "53164387" "subst" "0" "01943" "RFT1_000013" "g.53164387C>A" "" "" "" "RFT1(NM_052859.3):c.30G>T (p.A10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975931" "0" "50" "3" "53126065" "53126065" "subst" "1.2265E-5" "01804" "RFT1_000014" "g.53126065C>T" "" "" "" "RFT1(NM_052859.4):c.1480G>A (p.(Gly494Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975932" "0" "30" "3" "53137965" "53137965" "subst" "0.000194973" "01804" "RFT1_000015" "g.53137965G>A" "" "" "" "RFT1(NM_052859.4):c.1102+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034086" "0" "30" "3" "53126524" "53126524" "subst" "6.22763E-5" "01804" "RFT1_000016" "g.53126524C>A" "" "" "" "RFT1(NM_052859.4):c.1319G>T (p.(Gly440Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034087" "0" "50" "3" "53126560" "53126560" "subst" "0.000194281" "01804" "RFT1_000017" "g.53126560C>T" "" "" "" "RFT1(NM_052859.4):c.1283G>A (p.(Ser428Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034088" "0" "50" "3" "53137970" "53137970" "subst" "9.34314E-5" "01804" "RFT1_000018" "g.53137970G>A" "" "" "" "RFT1(NM_052859.4):c.1101C>T (p.(Ser367=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034089" "0" "30" "3" "53164370" "53164370" "subst" "0.000559508" "01804" "RFT1_000019" "g.53164370G>C" "" "" "" "RFT1(NM_052859.4):c.47C>G (p.(Ser16Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051356" "0" "50" "3" "53126035" "53126035" "subst" "8.56227E-5" "01804" "RFT1_000020" "g.53126035C>T" "" "" "" "RFT1(NM_052859.4):c.1510G>A (p.(Val504Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051357" "0" "50" "3" "53133511" "53133511" "subst" "4.06537E-6" "01804" "RFT1_000021" "g.53133511A>T" "" "" "" "RFT1(NM_052859.4):c.1103-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051358" "0" "50" "3" "53156514" "53156514" "subst" "0" "01804" "RFT1_000022" "g.53156514G>C" "" "" "" "RFT1(NM_052859.4):c.332C>G (p.(Pro111Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063996" "0" "50" "3" "53140884" "53140884" "subst" "0" "01804" "RFT1_000023" "g.53140884G>T" "" "" "" "RFT1(NM_052859.4):c.777C>A (p.(Gly259=))" "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 RFT1 ## Count = 20 "{{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}}" "0000297659" "00017666" "10" "1623" "0" "1623" "0" "c.1623A>G" "r.(?)" "p.(Thr541=)" "" "0000341190" "00017666" "50" "463" "0" "463" "0" "c.463G>T" "r.(?)" "p.(Ala155Ser)" "" "0000608814" "00017666" "50" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Ile450Val)" "" "0000608815" "00017666" "50" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Val429Ala)" "" "0000651303" "00017666" "50" "1133" "0" "1133" "0" "c.1133A>G" "r.(?)" "p.(Tyr378Cys)" "" "0000683573" "00017666" "70" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(Asn385Ser)" "" "0000689127" "00017666" "30" "696" "10" "696" "10" "c.696+10A>C" "r.(=)" "p.(=)" "" "0000719556" "00017666" "50" "1560" "0" "1560" "0" "c.1560G>C" "r.(?)" "p.(Glu520Asp)" "" "0000801331" "00017666" "70" "266" "1" "266" "1" "c.266+1G>A" "r.spl?" "p.?" "" "0000801332" "00017666" "30" "30" "0" "30" "0" "c.30G>T" "r.(?)" "p.(Ala10=)" "" "0000975931" "00017666" "50" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Gly494Ser)" "" "0000975932" "00017666" "30" "1102" "4" "1102" "4" "c.1102+4C>T" "r.spl?" "p.?" "" "0001034086" "00017666" "30" "1319" "0" "1319" "0" "c.1319G>T" "r.(?)" "p.(Gly440Val)" "" "0001034087" "00017666" "50" "1283" "0" "1283" "0" "c.1283G>A" "r.(?)" "p.(Ser428Asn)" "" "0001034088" "00017666" "50" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(=)" "" "0001034089" "00017666" "30" "47" "0" "47" "0" "c.47C>G" "r.(?)" "p.(Ser16Cys)" "" "0001051356" "00017666" "50" "1510" "0" "1510" "0" "c.1510G>A" "r.(?)" "p.(Val504Met)" "" "0001051357" "00017666" "50" "1103" "-9" "1103" "-9" "c.1103-9T>A" "r.(=)" "p.(=)" "" "0001051358" "00017666" "50" "332" "0" "332" "0" "c.332C>G" "r.(?)" "p.(Pro111Arg)" "" "0001063996" "00017666" "50" "777" "0" "777" "0" "c.777C>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000294614" "0000651303" "0000309110" "0000683573"