### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DIO1) # 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}}" "DIO1" "deiodinase, iodothyronine, type I" "1" "p33-p32" "unknown" "NC_000001.10" "UD_132084389239" "" "https://www.LOVD.nl/DIO1" "" "1" "2883" "1733" "147892" "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" "2024-11-15 16:02:42" "00000" "2023-01-11 15:44:22" ## 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}}" "00006427" "DIO1" "transcript variant 1" "001" "NM_000792.5" "" "NP_000783.2" "" "" "" "-23" "1837" "750" "54359861" "54376759" "" "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}}" "02870" "THMA" "thyroid hormone metabolism, abnormal" "AD;AR" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-15 16:02:58" "07126" "THMA2" "thyroid hormone metabolism, abnormal, type 2" "AD" "619855" "" "" "" "00006" "2024-11-15 15:55:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DIO1" "02870" "DIO1" "07126" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02870, 07126 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## 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 = 5 "{{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}}" "0000507837" "0" "10" "1" "54359922" "54359922" "subst" "0.0545361" "02330" "DIO1_000001" "g.54359922C>T" "" "" "" "DIO1(NM_000792.7):c.39C>T (p.L13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53894249C>T" "" "benign" "" "0000507838" "0" "30" "1" "54371889" "54371889" "subst" "0.002009" "02330" "DIO1_000002" "g.54371889G>A" "" "" "" "DIO1(NM_000792.7):c.603G>A (p.M201I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53906216G>A" "" "likely benign" "" "0000675884" "0" "30" "1" "54371976" "54371976" "subst" "0.000928493" "02330" "DIO1_000003" "g.54371976C>T" "" "" "" "DIO1(NM_000792.7):c.681+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717555" "0" "50" "1" "54360178" "54360178" "subst" "0.000262655" "02330" "DIO1_000004" "g.54360178C>T" "" "" "" "DIO1(NM_000792.7):c.295C>T (p.R99C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883499" "0" "50" "1" "54360103" "54360103" "subst" "8.20008E-6" "02330" "DIO1_000005" "g.54360103G>A" "" "" "" "DIO1(NM_000792.7):c.220G>A (p.V74I)" "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 DIO1 ## Count = 5 "{{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}}" "0000507837" "00006427" "10" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.?" "" "0000507838" "00006427" "30" "603" "0" "603" "0" "c.603G>A" "r.(?)" "p.?" "" "0000675884" "00006427" "30" "681" "9" "681" "9" "c.681+9C>T" "r.(=)" "p.(=)" "" "0000717555" "00006427" "50" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.?" "" "0000883499" "00006427" "50" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0