### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HS3ST6) # 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}}" "HS3ST6" "heparan sulfate (glucosamine) 3-O-sulfotransferase 6" "16" "p13.3" "unknown" "NC_000016.9" "UD_136016818065" "" "http://www.LOVD.nl/HS3ST6" "" "1" "14178" "64711" "619210" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/HS3ST6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-03-13 09:27:06" "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}}" "00009630" "HS3ST6" "heparan sulfate (glucosamine) 3-O-sulfotransferase 6" "001" "NM_001009606.2" "" "NP_001009606.2" "" "" "" "1" "1063" "936" "1968231" "1961464" "" "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}}" "06944" "HAE" "angioedema, hereditary" "" "" "" "" "" "00006" "2022-07-07 09:18:20" "" "" "07156" "HAE8" "angioedema, hereditary, type 8" "AD" "619367" "" "" "" "00006" "2025-03-13 09:26:45" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HS3ST6" "06944" "HS3ST6" "07156" ## 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}}" "00384653" "" "" "" "4" "" "03256" "{DOI:Bork 2021:10.1016/j.jaci.2021.01.011}" "Four female patients are affected, with a high number of lifetime attacks" "F" "no" "Germany" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00384653" "07156" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 06944, 07156 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000278437" "02963" "00384653" "03256" "Familial" "" "Female proband fulfills the following medical criteria for diagnosing HAEnCIINH, with recurrent swellings of the skin, abdominal pain attacks, tongue swellings or laryngeal attacks; absence of urticaria; family history positive for angioedema, and normal C1-INH function and concentration in plasma" "" "" "" "" "" "" "" "" ## 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}}" "0000385880" "00384653" "1" "03256" "03256" "2021-10-05 11:01:25" "" "" "SEQ-NG" "DNA" "bl" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000385880" "HS3ST6" ## 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 = 11 "{{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}}" "0000557045" "0" "30" "16" "1961803" "1961803" "subst" "4.47402E-5" "01943" "HS3ST6_000001" "g.1961803C>T" "" "" "" "HS3ST6(NM_001009606.3):c.817G>A (p.V273I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1911802C>T" "" "likely benign" "" "0000813043" "0" "70" "16" "1962097" "1962097" "subst" "0" "03256" "HS3ST6_000002" "g.1962097T>A" "0.000007 (gnomAD)" "{DOI:Bork 2021:10.1016/j.jaci.2021.01.011} {OMIM 619210:619367} {DOI:Pechnikova 2022:10.15789/1563-0625-ABA-2577}" "" "p.(Thr144Ser)" "Thr144 position is highly conserved among orthologous genes and paralogous genes\r\nIn silico analysis of variant prognostic and clinical significance for the development of HAE-HS3ST6 developed by Pechnikova 2022.\r\nAscribed by OMIM to angioedema, hereditary 8, HAE8" "Germline" "yes" "rs746467957" "0" "" "" "g.1912189T>A" "{CV-SCV:001712270.2}" "pathogenic" "ACMG" "0000892598" "0" "30" "16" "1962141" "1962141" "subst" "0.00104427" "02325" "HS3ST6_000003" "g.1962141G>A" "" "" "" "HS3ST6(NM_001009606.4):c.479C>T (p.T160M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930519" "0" "30" "16" "1962002" "1962002" "subst" "0" "02326" "HS3ST6_000004" "g.1962002G>C" "" "" "" "HS3ST6(NM_001009606.4):c.618C>G (p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930520" "0" "30" "16" "1962004" "1962004" "subst" "0.000707374" "02326" "HS3ST6_000005" "g.1962004C>A" "" "" "" "HS3ST6(NM_001009606.4):c.616G>T (p.A206S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950533" "0" "30" "16" "1967986" "1967986" "dup" "0" "02325" "HS3ST6_000006" "g.1967986dup" "" "" "" "HS3ST6(NM_001009606.4):c.342dup (p.(Asp115Argfs*8)), HS3ST6(NM_001009606.4):c.342dupC (p.D115Rfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981674" "0" "50" "16" "1968200" "1968200" "subst" "0" "01804" "HS3ST6_000007" "g.1968200T>C" "" "" "" "HS3ST6(NM_001009606.4):c.125A>G (p.(Tyr42Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040869" "0" "50" "16" "1961881" "1961881" "subst" "4.16323E-6" "02325" "HS3ST6_000008" "g.1961881C>T" "" "" "" "HS3ST6(NM_001009606.4):c.739G>A (p.V247I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040873" "0" "30" "16" "1962215" "1962215" "subst" "0.00732572" "01804" "HS3ST6_000009" "g.1962215C>T" "" "" "" "HS3ST6(NM_001009606.4):c.414-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040876" "0" "30" "16" "1967986" "1967986" "dup" "0" "01804" "HS3ST6_000006" "g.1967986dup" "" "" "" "HS3ST6(NM_001009606.4):c.342dup (p.(Asp115Argfs*8)), HS3ST6(NM_001009606.4):c.342dupC (p.D115Rfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040877" "0" "30" "16" "1968001" "1968001" "subst" "0.000145709" "01804" "HS3ST6_000010" "g.1968001C>A" "" "" "" "HS3ST6(NM_001009606.4):c.324G>T (p.(Glu108Asp))" "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 HS3ST6 ## Count = 11 "{{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}}" "0000557045" "00009630" "30" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Ile)" "" "0000813043" "00009630" "70" "430" "0" "430" "0" "c.430A>T" "r.(?)" "p.(Lys144*)" "2" "0000892598" "00009630" "30" "386" "0" "386" "0" "c.386C>T" "r.(?)" "p.(Thr129Met)" "" "0000930519" "00009630" "30" "525" "0" "525" "0" "c.525C>G" "r.(?)" "p.(=)" "" "0000930520" "00009630" "30" "523" "0" "523" "0" "c.523G>T" "r.(?)" "p.(Ala175Ser)" "" "0000950533" "00009630" "30" "249" "0" "249" "0" "c.249dup" "r.(?)" "p.(Asp84Argfs*8)" "" "0000981674" "00009630" "50" "32" "0" "32" "0" "c.32A>G" "r.(?)" "p.(Tyr11Cys)" "" "0001040869" "00009630" "50" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Val216Ile)" "" "0001040873" "00009630" "30" "321" "-9" "321" "-9" "c.321-9G>A" "r.(=)" "p.(=)" "" "0001040876" "00009630" "30" "249" "0" "249" "0" "c.249dup" "r.(?)" "p.(Asp84Argfs*8)" "" "0001040877" "00009630" "30" "231" "0" "231" "0" "c.231G>T" "r.(?)" "p.(Glu77Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000385880" "0000813043"