### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = B3GNT4) # 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}}" "B3GNT4" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4" "12" "q24" "unknown" "NC_000012.11" "UD_136022127564" "" "https://www.LOVD.nl/B3GNT4" "" "1" "15683" "79369" "605864" "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/B3GNT4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-05 14:25:57" "00000" "2024-02-26 20:06:56" ## 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}}" "00003216" "B3GNT4" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4" "001" "NM_030765.2" "" "NP_110392.1" "" "" "" "-218" "1286" "1137" "122688228" "122692084" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05117" "MDDG" "dystrophy, muscular, dystroglycanopathy (MDDG)" "" "" "" "" "" "00006" "2016-01-11 01:55:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00265779" "" "" "" "1" "" "00006" "Vissing WMS2019, absO14" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Pakistan" "" "0" "" "" "" "Pat" "00326917" "" "" "" "3" "" "00006" "{PMID:Najmabadi 2011:21937992}" "family, 3 affected" "" "yes" "Iran" "" "0" "" "" "" "8401214" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00265779" "05117" "00326917" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05117 ## Count = 2 "{{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}}" "0000203565" "05117" "00265779" "00006" "Familial, autosomal recessive" "46y" "8y-frequent falls, involuntary movements, spastic limb paresis; 13y-lost ambulation; 25y-deteriorating speech; 32y-loss of speech, loss cognitive skills, ..." "08y" "" "frequent falls" "" "" "" "" "" "alpha dystroglycanopathy" "0000245380" "00139" "00326917" "00006" "Unknown" "" "mild-moderate intellectual disability, coarse face, short philtrum, obesity and speech problems, coarse face, short philtrum, obesity, speech problems" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000266902" "00265779" "1" "00006" "00006" "2019-10-05 14:35:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328130" "00326917" "1" "00006" "00006" "2021-01-16 13:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000266902" "B3GNT4" ## 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 = 7 "{{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}}" "0000546908" "0" "30" "12" "122685139" "122685139" "subst" "0.00266391" "01804" "B3GNT4_000001" "g.122685139A>G" "" "" "" "LRRC43(NM_001098519.1):c.1552A>G (p.(Lys518Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122200592A>G" "" "likely benign" "" "0000546909" "0" "30" "12" "122693045" "122693045" "subst" "4.06359E-6" "01943" "B3GNT4_000002" "g.122693045G>A" "" "" "" "DIABLO(NM_001278304.1):c.444C>T (p.S148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122208498G>A" "" "likely benign" "" "0000597741" "3" "90" "12" "122691276" "122691276" "subst" "0" "00006" "B3GNT4_000003" "g.122691276G>T" "" "Vissing WMS2019, absO14" "" "G160W" "" "Germline" "" "" "0" "" "" "g.122206729G>T" "" "pathogenic (recessive)" "" "0000723885" "0" "30" "12" "122693102" "122693102" "subst" "0.000976642" "01943" "B3GNT4_000004" "g.122693102G>A" "" "" "" "DIABLO(NM_001278304.1):c.387C>T (p.T129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853291" "0" "50" "12" "122693075" "122693075" "subst" "0" "01943" "B3GNT4_000005" "g.122693075T>C" "" "" "" "DIABLO(NM_001278304.1):c.414A>G (p.K138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000872204" "3" "50" "12" "122691863" "122691864" "ins" "0" "00006" "B3GNT4_000006" "g.122691863_122691864insN[9]" "" "{PMID:Najmabadi 2011:21937992}" "" "chr12:121257816-121257817ins9" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000966779" "0" "50" "12" "122693112" "122693112" "subst" "8.15714E-6" "02327" "B3GNT4_000007" "g.122693112G>C" "" "" "" "" "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 B3GNT4 ## Count = 7 "{{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}}" "0000546908" "00003216" "30" "-3307" "0" "-3307" "0" "c.-3307A>G" "r.(?)" "p.(=)" "" "0000546909" "00003216" "30" "2247" "0" "2247" "0" "c.*1110G>A" "r.(=)" "p.(=)" "" "0000597741" "00003216" "90" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Gly160Trp)" "" "0000723885" "00003216" "30" "2304" "0" "2304" "0" "c.*1167G>A" "r.(=)" "p.(=)" "" "0000853291" "00003216" "50" "2277" "0" "2277" "0" "c.*1140T>C" "r.(=)" "p.(=)" "" "0000872204" "00003216" "50" "1065" "0" "1066" "0" "c.1065_1066insN[9]" "r.?" "p.?" "" "0000966779" "00003216" "50" "2314" "0" "2314" "0" "c.*1177G>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000266902" "0000597741" "0000328130" "0000872204"