### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STT3B) # 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}}" "STT3B" "STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)" "3" "p24.1" "unknown" "NC_000003.11" "UD_132438980022" "" "https://www.LOVD.nl/STT3B" "" "1" "30611" "201595" "608605" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-14 19:41:25" "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}}" "00020508" "STT3B" "STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)" "001" "NM_178862.1" "" "NP_849193.1" "" "" "" "1" "2481" "2481" "31574491" "31677556" "" "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}}" "04023" "CDG1X" "glycosylation, congenital disorder of, type Ix (CDG-1X)" "AR" "615597" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-14 19:41:45" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "STT3B" "04023" "STT3B" "05461" ## 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}}" "00385764" "" "" "" "1" "" "00006" "{PMID:Shrimal 2013:23842455}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Iraq" "04y" "0" "" "" "" "Fam2Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00385764" "05461" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04023, 05461 ## 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}}" "0000279577" "05461" "00385764" "00006" "Familial, autosomal recessive" "04y" "intrauterine growth retardation; 4y-deceased; microcephaly, failure to thrive, developmental delay, feeding problems, respiratory difficulties, intellectual disability, cerebellar atrophy, seizures/epilepsy, no visual tracking, optic nerve atrophy, hypotonia, gastrointestinal symptoms/G-Tube, liver involvement, thrombocytopenia; genital abnormalities, micropenis, hypoplastic scrotum, undescended testes" "" "" "" "" "" "" "" "CDG1X" "congenital disorder of glycosylation" ## 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}}" "0000386992" "00385764" "1" "00006" "00006" "2021-10-14 19:36:42" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000386992" "STT3B" ## 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 = 6 "{{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}}" "0000518992" "0" "10" "3" "31666442" "31666442" "subst" "0.00231621" "01943" "STT3B_000002" "g.31666442C>T" "" "" "" "STT3B(NM_178862.2):c.1764C>T (p.Y588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31624950C>T" "" "benign" "" "0000814841" "3" "90" "3" "31663820" "31663820" "subst" "0" "00006" "STT3B_000004" "g.31663820G>T" "" "{PMID:Shrimal 2013:23842455}" "" "" "no mRNA expression detectable" "Germline" "" "" "0" "" "" "g.31622328G>T" "" "pathogenic (recessive)" "" "0000962665" "0" "50" "3" "31666473" "31666473" "subst" "2.44357E-5" "02327" "STT3B_000005" "g.31666473G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975746" "0" "50" "3" "31621439" "31621439" "subst" "0" "01804" "STT3B_000006" "g.31621439C>T" "" "" "" "STT3B(NM_178862.3):c.562C>T (p.(Leu188Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975747" "0" "50" "3" "31656614" "31656614" "subst" "0.000315864" "01804" "STT3B_000007" "g.31656614A>G" "" "" "" "STT3B(NM_178862.3):c.895A>G (p.(Ile299Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033897" "0" "30" "3" "31641849" "31641849" "subst" "3.41012E-5" "01804" "STT3B_000008" "g.31641849T>C" "" "" "" "STT3B(NM_178862.3):c.778-3T>C" "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 STT3B ## Count = 6 "{{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}}" "0000518992" "00020508" "10" "1764" "0" "1764" "0" "c.1764C>T" "r.(?)" "p.(Tyr588=)" "" "0000814841" "00020508" "90" "1539" "20" "1539" "20" "c.1539+20G>T" "r.0" "p.0" "" "0000962665" "00020508" "50" "1795" "0" "1795" "0" "c.1795G>A" "r.(?)" "p.(Ala599Thr)" "" "0000975746" "00020508" "50" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Leu188Phe)" "" "0000975747" "00020508" "50" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Ile299Val)" "" "0001033897" "00020508" "30" "778" "-3" "778" "-3" "c.778-3T>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000386992" "0000814841"