### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LGALS8) # 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}}" "LGALS8" "lectin, galactoside-binding, soluble, 8" "1" "q43" "unknown" "NC_000001.10" "UD_132319265477" "" "https://www.LOVD.nl/LGALS8" "" "1" "6569" "3964" "606099" "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/LGALS8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-05-27 11:59:32" "00000" "2025-05-05 21:14:00" ## 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}}" "00011084" "LGALS8" "transcript variant 1" "002" "NM_006499.4" "" "NP_006490.3" "" "" "" "-381" "5900" "1080" "236686739" "236716281" "" "0000-00-00 00:00:00" "" "" ## 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}}" "04254" "CLP" "cleft lip, cleft palate (CLP)" "" "" "" "" "" "00006" "2015-05-08 09:59:28" "00006" "2015-05-08 10:00:15" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00231412" "" "" "" "6" "" "03278" "{PMID:Cox 2019:31215115}" "4-generation family, 6 affected (3F, 3M)" "F;M" "" "United States" "" "0" "" "" "" "Fam4527" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00231412" "04254" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04254 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000173804" "04254" "00231412" "03278" "Familial, autosomal dominant" "" "vertebral hyper segmentation (HP:0003422), rib hyper segmentation (HP:0006655)" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000232511" "00231412" "1" "03278" "03278" "2019-05-02 06:00:24" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000232511" "GDF11" ## 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 = 12 "{{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}}" "0000321384" "0" "30" "1" "236714309" "236714310" "del" "0" "01804" "HEATR1_000002" "g.236714309_236714310del" "" "" "" "HEATR1(NM_018072.5):c.6347-4_6347-3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236551009_236551010del" "" "likely benign" "" "0000321385" "0" "30" "1" "236714310" "236714310" "del" "0" "01804" "HEATR1_000003" "g.236714310del" "" "" "" "HEATR1(NM_018072.5):c.6347-4del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236551010del" "" "likely benign" "" "0000480516" "0" "90" "1" "236702345" "236702346" "del" "0" "03278" "LGALS8_000001" "g.236702345_236702346del" "" "{PMID:Cox 2019:31215115}" "" "g.236702342GAA>G" "" "Germline" "" "" "0" "" "" "g.236539045_236539046del" "" "VUS" "" "0000506121" "0" "30" "1" "236720535" "236720535" "subst" "0.00161285" "01804" "HEATR1_000007" "g.236720535G>A" "" "" "" "HEATR1(NM_018072.5):c.5315C>T (p.(Pro1772Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236557235G>A" "" "likely benign" "" "0000506129" "0" "30" "1" "236758926" "236758926" "subst" "0.000309056" "01804" "HEATR1_000015" "g.236758926T>C" "" "" "" "HEATR1(NM_018072.5):c.1004A>G (p.(His335Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236595626T>C" "" "likely benign" "" "0000799198" "0" "30" "1" "236703971" "236703971" "subst" "1.65902E-5" "01804" "HEATR1_000018" "g.236703971T>G" "" "" "" "LGALS8(NM_006499.4):c.453T>G (p.(Phe151Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799199" "0" "30" "1" "236732427" "236732427" "subst" "0.0318266" "01804" "HEATR1_000019" "g.236732427G>A" "" "" "" "HEATR1(NM_018072.5):c.3949-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960909" "0" "10" "1" "236714305" "236714310" "dup" "0" "02329" "HEATR1_000020" "g.236714305_236714310dup" "" "" "" "HEATR1(NM_018072.6):c.6347-8_6347-3dupTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031843" "0" "30" "1" "236715417" "236715417" "subst" "0.000230042" "01804" "HEATR1_000021" "g.236715417A>T" "" "" "" "HEATR1(NM_018072.6):c.6238-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031844" "0" "50" "1" "236734764" "236734764" "subst" "0.0012538" "01804" "HEATR1_000022" "g.236734764C>T" "" "" "" "HEATR1(NM_018072.6):c.3835G>A (p.(Asp1279Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031845" "0" "50" "1" "236737999" "236737999" "subst" "0.000268323" "01804" "HEATR1_000023" "g.236737999C>T" "" "" "" "HEATR1(NM_018072.6):c.3289G>A (p.(Ala1097Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031846" "0" "50" "1" "236758923" "236758923" "subst" "0.000248076" "01804" "HEATR1_000024" "g.236758923C>T" "" "" "" "HEATR1(NM_018072.6):c.1007G>A (p.(Gly336Glu))" "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 LGALS8 ## Count = 12 "{{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}}" "0000321384" "00011084" "30" "3928" "0" "3929" "0" "c.*2848_*2849del" "r.(=)" "p.(=)" "" "0000321385" "00011084" "30" "3929" "0" "3929" "0" "c.*2849del" "r.(?)" "p.(=)" "" "0000480516" "00011084" "90" "301" "0" "302" "0" "c.301_302del" "r.(?)" "p.(Lys101Valfs*3)" "" "0000506121" "00011084" "30" "10154" "0" "10154" "0" "c.*9074G>A" "r.(=)" "p.(=)" "" "0000506129" "00011084" "30" "48545" "0" "48545" "0" "c.*47465T>C" "r.(=)" "p.(=)" "" "0000799198" "00011084" "30" "453" "0" "453" "0" "c.453T>G" "r.(?)" "p.(Phe151Leu)" "" "0000799199" "00011084" "30" "22046" "0" "22046" "0" "c.*20966G>A" "r.(=)" "p.(=)" "" "0000960909" "00011084" "10" "3924" "0" "3929" "0" "c.*2844_*2849dup" "r.(=)" "p.(=)" "" "0001031843" "00011084" "30" "5036" "0" "5036" "0" "c.*3956A>T" "r.(=)" "p.(=)" "" "0001031844" "00011084" "50" "24383" "0" "24383" "0" "c.*23303C>T" "r.(=)" "p.(=)" "" "0001031845" "00011084" "50" "27618" "0" "27618" "0" "c.*26538C>T" "r.(=)" "p.(=)" "" "0001031846" "00011084" "50" "48542" "0" "48542" "0" "c.*47462C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000232511" "0000480516"