### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC40A1) # 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}}" "SLC40A1" "solute carrier family 40 (iron-regulated transporter), member 1" "2" "q32" "unknown" "NG_009027.1" "UD_132085307667" "" "http://www.LOVD.nl/SLC40A1" "" "1" "10909" "30061" "604653" "1" "1" "1" "1" "alias FPN1\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SLC40A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-09 17:50:32" "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}}" "00019334" "SLC40A1" "solute carrier family 40 (iron-regulated transporter), member 1" "001" "NM_014585.5" "" "NP_055400.1" "" "" "" "-351" "3004" "1716" "190445537" "190425316" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00359" "HFE4" "hemochromatosis, type 4 (HFE-4)" "AD" "606069" "" "" "" "00006" "2014-03-20 16:36:05" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05278" "HFE" "hemochromatosis (HFE)" "" "" "" "" "" "00006" "2017-06-09 17:44:31" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC40A1" "00359" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00019844" "" "" "" "1" "" "00776" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "F" "" "Spain" "" "0" "" "" "" "22890139-Fam1" "00104905" "" "" "" "1" "" "00006" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "M" "" "Spain" "" "0" "" "" "" "22890139-Fam5Pat1" "00104935" "" "" "" "1" "" "00006" "{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}" "" "F" "" "France" "" "0" "" "" "" "23600741-Pat6" "00292518" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327547" "" "" "" "5" "" "00006" "{PMID:Beck 2014:25044745}" "2-generation family, 5 affected (2F, 3M)" "F;M" "yes" "Iraq" "" "0" "" "" "" "family" "00438687" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0692" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00019844" "05278" "00104905" "05278" "00104935" "05278" "00292518" "00198" "00327547" "04214" "00438687" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00359, 04214, 05278, 06906 ## 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}}" "0000082793" "05278" "00019844" "00776" "Familial, autosomal recessive" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "0000082798" "05278" "00104905" "00006" "Familial, autosomal recessive" "59y" "classic hemochromatosis; metabolic syndrome, hyperferritinemia; MRI severe iron overload phenotype, iron liver deposits (160 μmol Fe/g), not in spleen or pancreas; phlebotomy for\r\n2y (2 g of Fe) no follow-up MRI; abdominal ultrasound, revealed steatosis" "" "" "" "" "" "" "" "" "" "" "" "0000082832" "05278" "00104935" "00006" "Familial, autosomal dominant" "28y" "see paper; arthropathy, non-HFE related haemochromatosis, elevated transferrin saturation, arthropathy; phlebotomies very well tolerated, removed 19.5 g\r\niron" "" "" "" "" "" "" "" "" "" "" "" "0000245811" "04214" "00327547" "00006" "Familial, autosomal recessive" "" "see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease" "" "" "" "" "" "" "" "" "" "" "" "0000328590" "06906" "00438687" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019834" "00019844" "1" "00776" "00776" "2014-09-05 09:53:32" "" "" "SEQ" "DNA" "Whole blood" "" "0000105377" "00104905" "1" "00006" "00006" "2017-06-09 19:30:01" "" "" "SEQ" "DNA" "" "" "0000105407" "00104935" "1" "00006" "00006" "2017-06-10 22:43:13" "00006" "2017-06-10 22:54:52" "SEQ" "DNA" "" "" "0000293686" "00292518" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328762" "00327547" "1" "00006" "00006" "2021-01-23 14:41:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000440169" "00438687" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000019834" "TFR2" "0000105377" "HFE" "0000105377" "SLC40A1" "0000105377" "TFR2" "0000105407" "HFE" "0000105407" "SLC40A1" "0000105407" "TFR2" ## 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 = 25 "{{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}}" "0000170767" "0" "50" "2" "190445613" "190445614" "delins" "0" "00006" "SLC40A1_000001" "g.190445613_190445614delinsAA" "" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "-428_-427GG>TT" "" "Germline" "" "" "0" "" "" "g.189580887_189580888delinsAA" "" "VUS" "" "0000170783" "0" "50" "2" "190430301" "190430301" "subst" "7.31797E-5" "00006" "SLC40A1_000002" "g.190430301A>G" "" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "" "" "Germline" "" "" "0" "" "" "g.189565575A>G" "" "VUS" "" "0000170826" "1" "90" "2" "190430230" "190430230" "subst" "8.12486E-6" "00006" "SLC40A1_000003" "g.190430230C>T" "" "{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}" "" "" "" "Germline" "" "" "0" "" "" "g.189565504C>T" "" "pathogenic" "" "0000248500" "0" "10" "2" "190430177" "190430177" "subst" "0.62853" "02325" "SLC40A1_000005" "g.190430177A>G" "" "" "" "SLC40A1(NM_014585.6):c.663T>C (p.V221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189565451A>G" "" "benign" "" "0000298310" "0" "50" "2" "190426750" "190426750" "subst" "0.000150415" "02325" "SLC40A1_000004" "g.190426750C>T" "" "" "" "SLC40A1(NM_014585.6):c.1570G>A (p.V524I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189562024C>T" "" "VUS" "" "0000341049" "0" "10" "2" "190430177" "190430177" "subst" "0.62853" "02327" "SLC40A1_000005" "g.190430177A>G" "" "" "" "SLC40A1(NM_014585.6):c.663T>C (p.V221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189565451A>G" "" "benign" "" "0000650375" "1" "70" "2" "190430230" "190430230" "subst" "8.12486E-6" "03575" "SLC40A1_000003" "g.190430230C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs387907377}" "Germline" "" "rs387907377" "0" "" "" "g.189565504C>T" "" "likely pathogenic" "" "0000712799" "3" "50" "2" "190428384" "190428384" "subst" "0.000422472" "00000" "SLC40A1_000006" "g.190428384G>A" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "rs45606432" "0" "" "" "g.189563658G>A" "" "VUS" "" "0000718351" "0" "30" "2" "190428600" "190428600" "subst" "2.43902E-5" "02327" "SLC40A1_000007" "g.190428600C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718352" "0" "30" "2" "190439877" "190439877" "subst" "4.06276E-6" "01943" "SLC40A1_000008" "g.190439877C>T" "" "" "" "SLC40A1(NM_014585.5):c.271+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884649" "0" "50" "2" "190426701" "190426701" "subst" "1.2193E-5" "02327" "SLC40A1_000010" "g.190426701C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911493" "0" "50" "2" "190430214" "190430214" "subst" "0.000130015" "02325" "SLC40A1_000011" "g.190430214G>A" "" "" "" "SLC40A1(NM_014585.6):c.626C>T (p.S209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923546" "0" "90" "2" "190436485" "190436485" "subst" "0" "02327" "SLC40A1_000012" "g.190436485T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928459" "0" "90" "2" "190436477" "190436479" "del" "0" "02327" "SLC40A1_000013" "g.190436477_190436479del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928460" "0" "30" "2" "190437572" "190437572" "subst" "0.00830834" "02327" "SLC40A1_000014" "g.190437572G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928461" "0" "30" "2" "190437632" "190437632" "subst" "0.00584612" "02327" "SLC40A1_000015" "g.190437632G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936327" "0" "50" "2" "190428657" "190428657" "subst" "0" "00006" "SLC40A1_000016" "g.190428657G>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_014585:c.C1055A (T352N)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000974828" "0" "10" "2" "190426639" "190426639" "subst" "0.00117863" "02327" "SLC40A1_000017" "g.190426639T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974829" "0" "50" "2" "190430120" "190430122" "del" "0.000227489" "02325" "SLC40A1_000018" "g.190430120_190430122del" "" "" "" "SLC40A1(NM_014585.6):c.718_720delAAA (p.K240del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974830" "0" "10" "2" "190445194" "190445194" "subst" "0.169255" "02327" "SLC40A1_000019" "g.190445194G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024462" "0" "50" "2" "190440053" "190440053" "subst" "0" "02327" "SLC40A1_000020" "g.190440053T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045487" "0" "70" "2" "190430230" "190430230" "subst" "8.12486E-6" "03779" "SLC40A1_000003" "g.190430230C>T" "" "" "" "" "" "Unknown" "" "rs387907377" "0" "" "" "" "" "likely pathogenic" "" "0001045488" "0" "70" "2" "190430230" "190430230" "subst" "8.12486E-6" "03779" "SLC40A1_000003" "g.190430230C>T" "" "" "" "" "" "Unknown" "" "rs387907377" "0" "" "" "" "" "likely pathogenic" "" "0001045795" "0" "30" "2" "190426666" "190426666" "subst" "0.00030072" "02327" "SLC40A1_000021" "g.190426666C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045796" "0" "30" "2" "190428601" "190428601" "subst" "0.000101628" "02325" "SLC40A1_000022" "g.190428601G>A" "" "" "" "SLC40A1(NM_014585.6):c.1111C>T (p.R371W)" "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 SLC40A1 ## Count = 25 "{{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}}" "0000170767" "00019334" "50" "-428" "0" "-427" "0" "c.-428_-427delinsTT" "r.(=)" "p.(=)" "_1" "0000170783" "00019334" "50" "539" "0" "539" "0" "c.539T>C" "r.(?)" "p.(Ile180Thr)" "6" "0000170826" "00019334" "90" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Gly204Ser)" "6" "0000248500" "00019334" "10" "663" "0" "663" "0" "c.663T>C" "r.(?)" "p.(Val221=)" "" "0000298310" "00019334" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Val524Ile)" "" "0000341049" "00019334" "10" "663" "0" "663" "0" "c.663T>C" "r.(?)" "p.(Val221=)" "" "0000650375" "00019334" "70" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Gly204Ser)" "" "0000712799" "00019334" "50" "1328" "0" "1328" "0" "c.1328C>T" "r.(?)" "p.(Pro443Leu)" "" "0000718351" "00019334" "30" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "" "0000718352" "00019334" "30" "271" "10" "271" "10" "c.271+10G>A" "r.(=)" "p.(=)" "" "0000884649" "00019334" "50" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540Gln)" "" "0000911493" "00019334" "50" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" "0000923546" "00019334" "90" "470" "0" "470" "0" "c.470A>G" "r.(?)" "p.(Asp157Gly)" "" "0000928459" "00019334" "90" "485" "0" "487" "0" "c.485_487del" "r.(?)" "p.(Val162del)" "" "0000928460" "00019334" "30" "387" "0" "387" "0" "c.387C>T" "r.(?)" "p.(=)" "" "0000928461" "00019334" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(=)" "" "0000936327" "00019334" "50" "1055" "0" "1055" "0" "c.1055C>A" "r.(?)" "p.(Thr352Asn)" "" "0000974828" "00019334" "10" "1681" "0" "1681" "0" "c.1681A>G" "r.(?)" "p.(Arg561Gly)" "" "0000974829" "00019334" "50" "718" "0" "720" "0" "c.718_720del" "r.(?)" "p.(Lys240del)" "" "0000974830" "00019334" "10" "-8" "0" "-8" "0" "c.-8C>G" "r.(?)" "p.(=)" "" "0001024462" "00019334" "50" "112" "-7" "112" "-7" "c.112-7A>G" "r.(=)" "p.(=)" "" "0001045487" "00019334" "70" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Gly204Ser)" "" "0001045488" "00019334" "70" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Gly204Ser)" "" "0001045795" "00019334" "30" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Ala552Thr)" "" "0001045796" "00019334" "30" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000019834" "0000170767" "0000105377" "0000170783" "0000105407" "0000170826" "0000293686" "0000650375" "0000328762" "0000712799" "0000440169" "0000936327"