### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = B3GNT1)
# 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}}"
"B3GNT1" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1" "11" "q13.2" "unknown" "NC_000011.9" "UD_132319496343" "" "https://www.LOVD.nl/B3GNT1" "" "1" "15685" "11041" "605517" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
" "" "g" "https://databases.lovd.nl/shared/refseq/B3GNT1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2013-04-01 00:00:00" "00006" "2019-01-20 12:42:53" "00000" "2024-04-19 20:27:30"
## 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}}"
"00003213" "B3GNT1" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1" "001" "NM_006876.2" "" "NP_006867.1" "" "" "" "-145" "1925" "1248" "66115161" "66112843" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{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"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00361" "WWS" "Walker-Warburg syndrome (WWS)" "SMo" "" "" "" "" "00006" "2014-03-22 16:35:00" "00006" "2021-12-10 21:51:32"
"03887" "MDDGA13" "dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A13 (MDDGA-13)" "AR" "615287" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"B3GNT1" "00139"
"B3GNT1" "03887"
## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00151380" "" "" "" "4" "" "00006" "{PMID:Buysse 2013:23359570}" "2-generation family, 4 affecteds (3 terminated pregnancies), unaffected heterozygous carrier parents" "M" "no" "India" "02y" "0" "" "" "East" ""
"00151381" "" "" "" "3" "" "00006" "{PMID:Buysse 2013:23359570}" "2-generation family, 3 unaffected carriers (parents/brother patients)" "" "no" "India" "" "0" "" "" "East" ""
"00290478" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290479" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290480" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}" "{{diseaseid}}"
"00151380" "00361"
"00151381" "00198"
"00290478" "00198"
"00290479" "00198"
"00290480" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00361, 03887
## Count = 2
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000123775" "00198" "00151381" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000123816" "00361" "00151380" "00006" "Isolated (sporadic)" "" "hydrocephalus, Dandy-Walker malformation, retinal dysplasia, severe hypotonia, seizures; MRI typical WWS (ventricular enlargement, diffuse widening gyri, disorganization cortical sulci with areas of cobblestone lissencephaly along posterior aspects occipital lobes/temporal lobes; affected brain stem/cerebellum; CPK level 3180 u/L" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000152235" "00151380" "1" "00006" "00006" "2013-04-02 19:24:38" "00006" "2013-04-02 19:25:35" "SEQ" "DNA" "" ""
"0000152236" "00151381" "1" "00006" "00006" "2013-04-02 19:24:38" "" "" "SEQ" "DNA" "" ""
"0000291646" "00290478" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291647" "00290479" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291648" "00290480" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000152235" "B3GNT1"
"0000152236" "B3GNT1"
## 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 = 15
"{{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}}"
"0000245357" "3" "90" "11" "66113600" "66113600" "subst" "8.16653E-6" "00006" "B3GNT1_000001" "g.66113600T>C" "1/77 families" "{PMID:Buysse 2013:23359570}" "" "" "homozygosity mapping; not in 5739 exomes EVS/672 in-house exomes" "Germline" "yes" "" "0" "" "" "g.66346129T>C" "" "pathogenic" ""
"0000245358" "1" "90" "11" "66113600" "66113600" "subst" "8.16653E-6" "00006" "B3GNT1_000001" "g.66113600T>C" "1/77 families" "{PMID:Buysse 2013:23359570}" "" "" "homozygosity mapping; not in 5739 exomes EVS/672 in-house exomes" "Germline" "yes" "" "0" "" "" "g.66346129T>C" "" "pathogenic" ""
"0000245359" "3" "90" "11" "66113551" "66113551" "subst" "8.12744E-6" "00006" "B3GNT1_000002" "g.66113551G>A" "1/77 families" "{PMID:Buysse 2013:23359570}" "" "" "homozygosity mapping; not in 5739 exomes EVS/672 in-house exomes" "Germline" "yes" "" "0" "" "" "g.66346080G>A" "" "pathogenic" ""
"0000245360" "1" "90" "11" "66113551" "66113551" "subst" "8.12744E-6" "00006" "B3GNT1_000002" "g.66113551G>A" "1/77 families" "{PMID:Buysse 2013:23359570}" "" "" "homozygosity mapping; not in 5739 exomes EVS/672 in-house exomes" "Germline" "yes" "" "0" "" "" "g.66346080G>A" "" "pathogenic" ""
"0000245361" "0" "90" "11" "66113551" "66113551" "subst" "8.12744E-6" "00006" "B3GNT1_000002" "g.66113551G>A" "" "{PMID:Buysse 2013:23359570}" "" "" "expression cloning; normal cellular localisation, significantly decreased glycosyltransferase function" "In vitro (cloned)" "" "" "0" "" "" "g.66346080G>A" "" "NA" ""
"0000245362" "1" "90" "11" "66113551" "66113551" "subst" "8.12744E-6" "00006" "B3GNT1_000002" "g.66113551G>A" "" "{PMID:Buysse 2013:23359570}" "" "" "expression cloning; normal cellular localisation, significantly decreased glycosyltransferase function" "In vitro (cloned)" "" "" "0" "" "" "g.66346080G>A" "" "NA" ""
"0000245363" "0" "90" "11" "66113600" "66113600" "subst" "8.16653E-6" "00006" "B3GNT1_000001" "g.66113600T>C" "" "{PMID:Buysse 2013:23359570}" "" "" "expression cloning; normal cellular localisation, significantly decreased glycosyltransferase function" "In vitro (cloned)" "" "" "0" "" "" "g.66346129T>C" "" "NA" ""
"0000245364" "1" "90" "11" "66113600" "66113600" "subst" "8.16653E-6" "00006" "B3GNT1_000001" "g.66113600T>C" "" "{PMID:Buysse 2013:23359570}" "" "" "expression cloning; normal cellular localisation, significantly decreased glycosyltransferase function" "In vitro (cloned)" "" "" "0" "" "" "g.66346129T>C" "" "NA" ""
"0000263496" "0" "30" "11" "66114948" "66114948" "subst" "0.0005431" "01943" "B3GNT1_000004" "g.66114948C>G" "" "" "" "B4GAT1(NM_006876.2):c.69G>C (p.A23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66347477C>G" "" "likely benign" ""
"0000322326" "0" "30" "11" "66108808" "66108808" "subst" "2.84914E-5" "01804" "BRMS1_000001" "g.66108808C>A" "" "" "" "BRMS1(NM_001024957.1):c.231-4G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66341337C>A" "" "likely benign" ""
"0000545069" "0" "50" "11" "66109703" "66109703" "subst" "0" "01804" "B3GNT1_000005" "g.66109703C>T" "" "" "" "BRMS1(NM_001024957.1):c.3G>A (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66342232C>T" "" "VUS" ""
"0000613577" "0" "30" "11" "66114375" "66114375" "subst" "0" "01943" "B3GNT1_000009" "g.66114375A>G" "" "" "" "B4GAT1(NM_006876.2):c.642T>C (p.N214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66346904A>G" "" "likely benign" ""
"0000648335" "1" "50" "11" "66113551" "66113551" "subst" "8.12744E-6" "03575" "B3GNT1_000002" "g.66113551G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 heterozygous, no homozygous; {DB:CLININrs397509396}" "Germline" "" "rs397509396" "0" "" "" "g.66346080G>A" "" "VUS" ""
"0000648336" "1" "50" "11" "66113600" "66113600" "subst" "8.16653E-6" "03575" "B3GNT1_000001" "g.66113600T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 heterozygous, no homozygous; {DB:CLININrs397509397}" "Germline" "" "rs397509397" "0" "" "" "g.66346129T>C" "" "VUS" ""
"0000648337" "1" "50" "11" "66114662" "66114662" "subst" "0.000170811" "03575" "B3GNT1_000010" "g.66114662G>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201892419}" "Germline" "" "rs201892419" "0" "" "" "g.66347191G>T" "" "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 B3GNT1
## Count = 15
"{{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}}"
"0000245357" "00003213" "90" "1168" "0" "1168" "0" "c.1168A>G" "r.(?)" "p.(Asn390Asp)" "1"
"0000245358" "00003213" "90" "1168" "0" "1168" "0" "c.1168A>G" "r.(?)" "p.(Asn390Asp)" "1"
"0000245359" "00003213" "90" "1217" "0" "1217" "0" "c.1217C>T" "r.(?)" "p.(Ala406Val)" "1"
"0000245360" "00003213" "90" "1217" "0" "1217" "0" "c.1217C>T" "r.(?)" "p.(Ala406Val)" "1"
"0000245361" "00003213" "90" "1217" "0" "1217" "0" "c.1217C>T" "r.(?)" "p.Ala406Val" "1"
"0000245362" "00003213" "90" "1217" "0" "1217" "0" "c.1217C>T" "r.(?)" "p.Ala406Val" "1"
"0000245363" "00003213" "90" "1168" "0" "1168" "0" "c.1168A>G" "r.(?)" "p.Asn390Asp" "1"
"0000245364" "00003213" "90" "1168" "0" "1168" "0" "c.1168A>G" "r.(?)" "p.Asn390Asp" "1"
"0000263496" "00003213" "30" "69" "0" "69" "0" "c.69G>C" "r.(?)" "p.(Ala23=)" ""
"0000322326" "00003213" "30" "5960" "0" "5960" "0" "c.*4712G>T" "r.(=)" "p.(=)" ""
"0000545069" "00003213" "50" "5065" "0" "5065" "0" "c.*3817G>A" "r.(=)" "p.(=)" ""
"0000613577" "00003213" "30" "642" "0" "642" "0" "c.642T>C" "r.(?)" "p.(Asn214=)" ""
"0000648335" "00003213" "50" "1217" "0" "1217" "0" "c.1217C>T" "r.(?)" "p.(Ala406Val)" ""
"0000648336" "00003213" "50" "1168" "0" "1168" "0" "c.1168A>G" "r.(?)" "p.(Asn390Asp)" ""
"0000648337" "00003213" "50" "355" "0" "355" "0" "c.355C>A" "r.(?)" "p.(Pro119Thr)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{variantid}}"
"0000152235" "0000245357"
"0000152235" "0000245359"
"0000152236" "0000245358"
"0000152236" "0000245360"
"0000291646" "0000648335"
"0000291647" "0000648336"
"0000291648" "0000648337"