### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LRIF1) # 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}}" "LRIF1" "ligand dependent nuclear receptor interacting factor 1" "1" "p13.3" "unknown" "NC_000001.10" "UD_145576230007" "" "https://www.LOVD.nl/LRIF1" "" "1" "30299" "55791" "615354" "1" "1" "1" "1" "Alias c1ORF103.\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/LRIF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2017-04-11 11:51:57" "" "" "" "" ## 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}}" "00024246" "LRIF1" "transcript variant 1" "004" "NM_018372.3" "" "NP_060842.3" "" "" "" "-256" "3079" "2310" "111506566" "111489812" "00006" "2017-04-11 11:51:57" "" "" ## 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}}" "00083" "FSHD2" "dystrophy, muscular, facioscapulohumeral, type 2 (FSHD-2)" "" "158901" "" "" "" "00006" "2012-11-12 14:51:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LRIF1" "00083" ## 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 00083 ## 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 = 8 "{{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}}" "0000927973" "0" "30" "1" "111492547" "111492547" "subst" "0.0029368" "01804" "LRIF1_000001" "g.111492547A>G" "" "" "" "LRIF1(NM_001006945.1):c.187T>C (p.(Ser63Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927974" "0" "50" "1" "111494171" "111494171" "subst" "0" "01804" "LRIF1_000002" "g.111494171A>G" "" "" "" "LRIF1(NM_018372.3):c.1335T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927975" "0" "30" "1" "111494471" "111494471" "subst" "0.00049372" "01804" "LRIF1_000003" "g.111494471C>T" "" "" "" "LRIF1(NM_018372.3):c.1035G>A (p.(Thr345=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946929" "0" "30" "1" "111490837" "111490837" "subst" "0.00244156" "01804" "LRIF1_000004" "g.111490837C>T" "" "" "" "LRIF1(NM_001006945.1):c.446G>A (p.(Ser149Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013191" "0" "30" "1" "111494147" "111494147" "subst" "0" "01804" "LRIF1_000005" "g.111494147A>C" "" "" "" "LRIF1(NM_018372.3):c.1359T>G (p.(Ser453=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031053" "0" "50" "1" "111490690" "111490690" "subst" "0.000288672" "01804" "LRIF1_000006" "g.111490690G>A" "" "" "" "LRIF1(NM_001006945.1):c.593C>T (p.(Pro198Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031054" "0" "30" "1" "111494021" "111494021" "subst" "0" "01804" "LRIF1_000007" "g.111494021G>A" "" "" "" "LRIF1(NM_018372.3):c.1485C>T (p.(Val495=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031055" "0" "50" "1" "111495087" "111495087" "subst" "0.000227757" "01804" "LRIF1_000008" "g.111495087A>G" "" "" "" "LRIF1(NM_018372.4):c.419T>C (p.(Val140Ala))" "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 LRIF1 ## Count = 8 "{{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}}" "0000927973" "00024246" "30" "1795" "0" "1795" "0" "c.1795T>C" "r.(?)" "p.(Ser599Pro)" "" "0000927974" "00024246" "50" "1335" "0" "1335" "0" "c.1335T>C" "r.(?)" "p.(=)" "" "0000927975" "00024246" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(=)" "" "0000946929" "00024246" "30" "2054" "0" "2054" "0" "c.2054G>A" "r.(?)" "p.(Ser685Asn)" "" "0001013191" "00024246" "30" "1359" "0" "1359" "0" "c.1359T>G" "r.(?)" "p.(=)" "" "0001031053" "00024246" "50" "2201" "0" "2201" "0" "c.2201C>T" "r.(?)" "p.(Pro734Leu)" "" "0001031054" "00024246" "30" "1485" "0" "1485" "0" "c.1485C>T" "r.(?)" "p.(=)" "" "0001031055" "00024246" "50" "419" "0" "419" "0" "c.419T>C" "r.(?)" "p.(Val140Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0