### LOVD-version 3000-25c ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TF) # 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}}" "TF" "transferrin" "3" "q21" "unknown" "NG_013080.1" "UD_132118239595" "" "https://www.LOVD.nl/TF" "" "1" "11740" "7018" "190000" "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/TF_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-09 15:59:39" "00000" "2020-09-15 15:50:26" ## 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}}" "00021010" "TF" "transferrin" "001" "NM_001063.3" "" "NP_001054.1" "" "" "" "-308" "2483" "2097" "133464977" "133497850" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01673" "-" "atransferrinemia" "" "209300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TF" "01673" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00104896" "" "" "" "1" "00776" "" "" "F" "no" "Spain" "" "0" "" "" "" "" "00104897" "" "" "" "1" "00776" "" "" "M" "?" "Germany" "" "0" "" "" "" "" "00269324" "" "" "" "1" "03482" "" "2-generation family, 1 affected, second degree consanguineous parents" "F" "yes" "Tunisia" "00y06m" "0" "" "blood transfusions every 1 to 2 months + iron chelator (Deferasirox)" "North african" "" "00293222" "" "" "" "1" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00104896" "01673" "00104897" "01673" "00269324" "01673" "00293222" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01673 ## Count = 3 "{{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}}" "0000082783" "01673" "00104896" "00776" "Familial, autosomal recessive" "" "Severe hypochromic microcytic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082784" "01673" "00104897" "00776" "Familial, autosomal recessive" "" "Severe hypochromic microcytic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000207156" "01673" "00269324" "03482" "Familial, autosomal recessive" "00y08m" "6m, no history of any serious disorder in family; neonatal period severe hypochromic and microcytic anemia with undetectable serum transferrin" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000105368" "00104896" "1" "00776" "00776" "2017-06-09 12:26:14" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000105369" "00104897" "1" "00776" "00776" "2017-06-09 12:43:11" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000270456" "00269324" "1" "03482" "03482" "2019-11-19 12:39:41" "" "" "SEQ" "DNA" "" "" "0000294390" "00293222" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000105368" "TF" "0000105369" "TF" "0000270456" "TF" ## 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}}" "0000170762" "21" "70" "3" "133483075" "133483075" "subst" "0" "00776" "TF_000003" "g.133483075C>A" "" "Pending" "" "" "not in 100 control chromosomes tested" "Germline" "" "" "0" "" "" "g.133764231C>A" "" "likely pathogenic" "" "0000170763" "11" "70" "3" "133496102" "133496102" "subst" "0" "00776" "TF_000004" "g.133496102T>G" "" "Pending" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.133777258T>G" "" "likely pathogenic" "" "0000170764" "21" "70" "3" "133475155" "133475158" "del" "0" "00776" "TF_000001" "g.133475155_133475158del" "" "Pending" "" "" "" "Germline" "" "" "0" "" "" "g.133756311_133756314del" "" "likely pathogenic" "" "0000170765" "11" "50" "3" "133497517" "133497517" "subst" "0" "00776" "TF_000002" "g.133497517A>G" "" "Pending" "" "" "" "Germline" "" "" "0" "" "" "g.133778673A>G" "" "VUS" "" "0000248796" "0" "10" "3" "133485133" "133485133" "subst" "0.991334" "02325" "TF_000007" "g.133485133A>G" "" "" "" "TF(NM_001063.3):c.1342A>G (p.I448V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133766289A>G" "" "benign" "" "0000249022" "0" "10" "3" "133465283" "133465283" "subst" "0.599656" "02325" "TF_000005" "g.133465283A>G" "" "" "" "TF(NM_001063.3):c.-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133746439A>G" "" "benign" "" "0000311791" "0" "10" "3" "133486958" "133486958" "subst" "0.218578" "02325" "TF_000008" "g.133486958G>C" "" "" "" "TF(NM_001063.3):c.1572G>C (p.L524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133768114G>C" "" "benign" "" "0000311792" "0" "10" "3" "133474328" "133474328" "subst" "0.335422" "02325" "TF_000006" "g.133474328G>A" "" "" "" "TF(NM_001063.3):c.624G>A (p.S208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133755484G>A" "" "benign" "" "0000518000" "0" "10" "3" "133465283" "133465283" "subst" "0.599656" "02327" "TF_000005" "g.133465283A>G" "" "" "" "TF(NM_001063.3):c.-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133746439A>G" "" "benign" "" "0000518001" "0" "50" "3" "133474225" "133474225" "subst" "0.000767047" "01943" "TF_000009" "g.133474225C>T" "" "" "" "TF(NM_001063.3):c.521C>T (p.S174L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133755381C>T" "" "VUS" "" "0000518002" "0" "10" "3" "133474328" "133474328" "subst" "0.335422" "02327" "TF_000006" "g.133474328G>A" "" "" "" "TF(NM_001063.3):c.624G>A (p.S208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133755484G>A" "" "benign" "" "0000518003" "0" "30" "3" "133476698" "133476698" "subst" "0.00329319" "01943" "TF_000010" "g.133476698A>G" "" "" "" "TF(NM_001063.3):c.956A>G (p.H319R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133757854A>G" "" "likely benign" "" "0000518004" "0" "10" "3" "133494354" "133494354" "subst" "0.160142" "02327" "TF_000011" "g.133494354C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133775510C>T" "" "benign" "" "0000604225" "3" "75" "3" "133489289" "133489289" "del" "0" "03482" "TF_000012" "g.133489289del" "" "" "" "293-63del" "in silico analysis indicate that this deletion is predicted to generate a higher score cryptic branch point leading to the production of an altered mRNA molecule" "Germline" "" "" "0" "" "" "g.133770445del" "" "likely pathogenic" "" "0000608333" "0" "50" "3" "133476769" "133476769" "subst" "0.000853083" "02325" "TF_000013" "g.133476769C>T" "" "" "" "TF(NM_001354703.1):c.895C>T (p.R299W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133757925C>T" "" "VUS" "" "0000651079" "1" "90" "3" "133496032" "133496032" "subst" "0.00249163" "03575" "TF_000014" "g.133496032G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918677}" "Germline" "" "rs121918677" "0" "" "" "g.133777188G>A" "" "pathogenic" "" "0000688946" "0" "30" "3" "133496032" "133496032" "subst" "0.00249163" "01943" "TF_000014" "g.133496032G>A" "" "" "" "TF(NM_001354703.1):c.1880G>A (p.G627E)" "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 TF ## 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}}" "0000170762" "00021010" "70" "1253" "0" "1253" "0" "c.1253C>A" "r.(1253c>a)" "p.(Ala418Glu)" "10" "0000170763" "00021010" "70" "2062" "20" "2062" "20" "c.2062+20T>G" "r.spl?" "p.(=)" "16i" "0000170764" "00021010" "70" "665" "0" "668" "0" "c.665_668del" "r.(665_668)del" "p.(Ala222Valfs*32)" "6" "0000170765" "00021010" "50" "2150" "0" "2150" "0" "c.*53A>G" "r.(*53a>g)" "p.(=)" "17" "0000248796" "00021010" "10" "1342" "0" "1342" "0" "c.1342=" "r.(=)" "p.(Val448=)" "" "0000249022" "00021010" "10" "-2" "0" "-2" "0" "c.-2A>G" "r.(?)" "p.(=)" "" "0000311791" "00021010" "10" "1572" "0" "1572" "0" "c.1572G>C" "r.(?)" "p.(Leu524=)" "" "0000311792" "00021010" "10" "624" "0" "624" "0" "c.624G>A" "r.(?)" "p.(Ser208=)" "" "0000518000" "00021010" "10" "-2" "0" "-2" "0" "c.-2A>G" "r.(?)" "p.(=)" "" "0000518001" "00021010" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ser174Leu)" "" "0000518002" "00021010" "10" "624" "0" "624" "0" "c.624G>A" "r.(?)" "p.(Ser208=)" "" "0000518003" "00021010" "30" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(His319Arg)" "" "0000518004" "00021010" "10" "1765" "0" "1765" "0" "c.1765C>T" "r.(?)" "p.(Pro589Ser)" "" "0000604225" "00021010" "75" "1623" "-63" "1623" "-63" "c.1623-63del" "r.spl?" "p.(?)" "13i" "0000608333" "00021010" "50" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Trp)" "" "0000651079" "00021010" "90" "2012" "0" "2012" "0" "c.2012G>A" "r.(?)" "p.(Gly671Glu)" "" "0000688946" "00021010" "30" "2012" "0" "2012" "0" "c.2012G>A" "r.(?)" "p.(Gly671Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000105368" "0000170762" "0000105368" "0000170763" "0000105369" "0000170764" "0000105369" "0000170765" "0000270456" "0000604225" "0000294390" "0000651079"