### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDST1) # 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}}" "NDST1" "N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1" "5" "q33.1" "unknown" "NG_041806.1" "UD_132612484461" "" "https://www.LOVD.nl/NDST1" "" "1" "7680" "3340" "600853" "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/NDST1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-10-24 15:53:46" "00000" "2026-01-20 18:57:21" ## 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}}" "00014392" "NDST1" "N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1" "001" "NM_001543.4" "" "NP_001534.1" "" "" "" "-502" "7528" "2649" "149887674" "149937773" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "04063" "POF8" "ovarian failure, premature, type 8 (POF-8)" "AR" "615723" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04591" "MRT46" "mental retardation, autosomal recessive, type 46 (MRT-45)" "AR" "616116" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NDST1" "04591" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00029771" "" "" "" "2" "" "01224" "{PMID:Le Quesne Stabej 2016:26059840}, {DOI:Le Quesne Stabej 2016:10.1038/ejhg.2015.107}" "two affected sisters, unaffected parents" "F" "yes" "(Lebanon)" "" "0" "" "" "Lebanese" "26059840-FamPatII1/2" "00183675" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat20" "00387721" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M161" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00029771" "04063" "00183675" "00139" "00387721" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04063, 04591 ## Count = 3 "{{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}}" "0000025736" "04063" "00029771" "01224" "Familial, autosomal recessive" "" "see paper; ...; primary ovarian insufficiency with complete lack of any pubertal development and streak gonads" "" "" "" "" "" "" "" "" "" "0000144361" "00139" "00183675" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "MRT-46" "intellectual disability" "0000281289" "00139" "00387721" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, epilepsy" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029814" "00029771" "1" "01224" "01224" "2015-02-08 00:02:12" "01224" "2015-02-16 10:35:39" "SEQ;SEQ-NG" "DNA" "" "" "0000184643" "00183675" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000388952" "00387721" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000029814" "STAG3" "0000184643" "NDST1" "0000388952" "NDST1" ## 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 = 24 "{{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}}" "0000222314" "3" "50" "5" "149901205" "149901205" "subst" "2.03074E-5" "00006" "NDST1_000001" "g.149901205G>A" "" "{PMID:Le Quesne Stabej 2016:26059840}, {DOI:Le Quesne Stabej 2016:10.1038/ejhg.2015.107}" "" "rs148227466" "" "Germline" "" "rs148227466" "0" "" "" "g.150521643G>A" "" "VUS" "" "0000255924" "0" "50" "5" "149915263" "149915263" "subst" "8.20183E-6" "01943" "NDST1_000004" "g.149915263A>G" "" "" "" "NDST1(NM_001543.4):c.1253A>G (p.E418G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150535701A>G" "" "VUS" "" "0000296344" "0" "10" "5" "149919739" "149919739" "subst" "0.710026" "02325" "NDST1_000006" "g.149919739G>C" "" "" "" "NDST1(NM_001543.5):c.1662G>C (p.T554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150540177G>C" "" "benign" "" "0000330697" "0" "50" "5" "149907760" "149907760" "subst" "9.74659E-5" "01804" "NDST1_000003" "g.149907760G>A" "" "" "" "NDST1(NM_001543.4):c.908G>A (p.(Gly303Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150528198G>A" "" "VUS" "" "0000330701" "0" "50" "5" "149924933" "149924933" "subst" "0" "01804" "NDST1_000010" "g.149924933G>A" "" "" "" "NDST1(NM_001543.4):c.2030G>A (p.(Ser677Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150545371G>A" "" "VUS" "" "0000341971" "0" "50" "5" "149901270" "149901270" "subst" "1.62475E-5" "02327" "NDST1_000011" "g.149901270C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150521708C>T" "" "VUS" "" "0000350460" "0" "50" "5" "149907735" "149907735" "subst" "2.03056E-5" "02327" "NDST1_000012" "g.149907735G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150528173G>A" "" "VUS" "" "0000408766" "3" "90" "5" "149921213" "149921213" "subst" "8.14538E-6" "00006" "NDST1_000013" "g.149921213G>A" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Germline" "" "" "0" "" "" "g.150541651G>A" "" "pathogenic (recessive)" "" "0000524971" "0" "50" "5" "149901150" "149901150" "subst" "0.000345262" "01804" "NDST1_000015" "g.149901150C>T" "" "" "" "NDST1(NM_001543.5):c.334C>T (p.(Arg112Cys), p.R112C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150521588C>T" "" "VUS" "" "0000524973" "0" "30" "5" "149919834" "149919834" "dup" "0" "01943" "NDST1_000008" "g.149919834dup" "" "" "" "NDST1(NM_001543.4):c.1749+8dupG, NDST1(NM_001543.5):c.1749+8dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150540272dup" "" "likely benign" "" "0000524974" "0" "30" "5" "149919834" "149919834" "dup" "0" "02326" "NDST1_000008" "g.149919834dup" "" "" "" "NDST1(NM_001543.4):c.1749+8dupG, NDST1(NM_001543.5):c.1749+8dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150540272dup" "" "likely benign" "" "0000524975" "0" "50" "5" "149921151" "149921151" "subst" "0" "01804" "NDST1_000017" "g.149921151G>A" "" "" "" "NDST1(NM_001543.4):c.1769G>A (p.(Arg590His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150541589G>A" "" "VUS" "" "0000801972" "0" "30" "5" "149907864" "149907864" "subst" "7.4701E-5" "01943" "NDST1_000018" "g.149907864T>A" "" "" "" "NDST1(NM_001543.4):c.1008+4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801973" "0" "70" "5" "149921213" "149921213" "subst" "8.14538E-6" "01943" "NDST1_000013" "g.149921213G>A" "" "" "" "NDST1(NM_001543.4):c.1831G>A (p.G611S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000817745" "3" "90" "5" "149922489" "149922489" "subst" "0" "00006" "NDST1_000019" "g.149922489G>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.150542927G>T" "" "pathogenic (recessive)" "ACMG" "0000948514" "0" "50" "5" "149901150" "149901150" "subst" "0.000345262" "02325" "NDST1_000015" "g.149901150C>T" "" "" "" "NDST1(NM_001543.5):c.334C>T (p.(Arg112Cys), p.R112C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976670" "0" "30" "5" "149907868" "149907868" "subst" "1.32786E-5" "01804" "NDST1_000020" "g.149907868C>T" "" "" "" "NDST1(NM_001543.5):c.1008+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035034" "0" "30" "5" "149900422" "149900422" "subst" "0" "01804" "NDST1_000021" "g.149900422C>T" "" "" "" "NDST1(NM_001543.5):c.-387-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035035" "0" "50" "5" "149901064" "149901064" "subst" "1.62509E-5" "01804" "NDST1_000022" "g.149901064C>T" "" "" "" "NDST1(NM_001543.5):c.248C>T (p.(Pro83Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035036" "0" "50" "5" "149921141" "149921141" "subst" "4.06517E-6" "01804" "NDST1_000023" "g.149921141G>A" "" "" "" "NDST1(NM_001543.5):c.1759G>A (p.(Glu587Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052169" "0" "50" "5" "149915311" "149915311" "subst" "4.09574E-6" "01804" "NDST1_000024" "g.149915311C>T" "" "" "" "NDST1(NM_001543.5):c.1301C>T (p.(Ser434Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052170" "0" "50" "5" "149915442" "149915442" "subst" "0" "01804" "NDST1_000025" "g.149915442A>G" "" "" "" "NDST1(NM_001543.5):c.1432A>G (p.(Ile478Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064446" "0" "50" "5" "149907735" "149907735" "subst" "2.03056E-5" "02325" "NDST1_000012" "g.149907735G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064447" "0" "50" "5" "149915371" "149915371" "subst" "8.18223E-5" "02325" "NDST1_000026" "g.149915371G>A" "" "" "" "" "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 NDST1 ## Count = 24 "{{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}}" "0000222314" "00014392" "50" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130His)" "2" "0000255924" "00014392" "50" "1253" "0" "1253" "0" "c.1253A>G" "r.(?)" "p.(Glu418Gly)" "" "0000296344" "00014392" "10" "1662" "0" "1662" "0" "c.1662G>C" "r.(?)" "p.(Thr554=)" "" "0000330697" "00014392" "50" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Gly303Glu)" "" "0000330701" "00014392" "50" "2030" "0" "2030" "0" "c.2030G>A" "r.(?)" "p.(Ser677Asn)" "" "0000341971" "00014392" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Trp)" "" "0000350460" "00014392" "50" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000408766" "00014392" "90" "1831" "0" "1831" "0" "c.1831G>A" "r.(?)" "p.(Gly611Ser)" "0" "0000524971" "00014392" "50" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Arg112Cys)" "" "0000524973" "00014392" "30" "1749" "8" "1749" "8" "c.1749+8dup" "r.(=)" "p.(=)" "" "0000524974" "00014392" "30" "1749" "8" "1749" "8" "c.1749+8dup" "r.(=)" "p.(=)" "" "0000524975" "00014392" "50" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(Arg590His)" "" "0000801972" "00014392" "30" "1008" "4" "1008" "4" "c.1008+4T>A" "r.spl?" "p.?" "" "0000801973" "00014392" "70" "1831" "0" "1831" "0" "c.1831G>A" "r.(?)" "p.(Gly611Ser)" "" "0000817745" "00014392" "90" "1926" "0" "1926" "0" "c.1926G>T" "r.(?)" "p.(Glu642Asp)" "" "0000948514" "00014392" "50" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Arg112Cys)" "" "0000976670" "00014392" "30" "1008" "8" "1008" "8" "c.1008+8C>T" "r.(=)" "p.(=)" "" "0001035034" "00014392" "30" "-387" "-8" "-387" "-8" "c.-387-8C>T" "r.(=)" "p.(=)" "" "0001035035" "00014392" "50" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Pro83Leu)" "" "0001035036" "00014392" "50" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Glu587Lys)" "" "0001052169" "00014392" "50" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Ser434Leu)" "" "0001052170" "00014392" "50" "1432" "0" "1432" "0" "c.1432A>G" "r.(?)" "p.(Ile478Val)" "" "0001064446" "00014392" "50" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0001064447" "00014392" "50" "1361" "0" "1361" "0" "c.1361G>A" "r.(?)" "p.(Arg454His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000029814" "0000222314" "0000184643" "0000408766" "0000388952" "0000817745"