### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = OBFC1)
# 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}}"
"OBFC1" "oligonucleotide/oligosaccharide-binding fold containing 1" "10" "q25.1" "unknown" "NC_000010.10" "UD_132319374640" "" "http://www.LOVD.nl/STN1" "" "1" "26200" "79991" "613128" "1" "1" "1" "1" "NOTE: gene name changed from OBFC1 to STN1\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/OBFC1_codingDNA.html" "1" "" "NOTE: gene name changed from OBFC1 to STN1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 14:42:48" "00000" "2023-07-07 10:10:56"
## 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}}"
"00014986" "OBFC1" "oligonucleotide/oligosaccharide-binding fold containing 1" "001" "NM_024928.4" "" "NP_079204.2" "" "" "" "-250" "6233" "1107" "105678045" "105637316" "" "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}}"
"00115" "CRMCC" "microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome)" "AR" "612199" "" "" "" "00001" "2013-03-08 10:55:44" "00006" "2021-12-10 21:51:32"
"06081" "CRMCC2" "Cerebroretinal microangiopathy with calcifications and cysts 2" "AR" "617341" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"OBFC1" "00115"
"OBFC1" "06081"
## 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}}"
"00081744" "" "" "" "1" "" "00015" "{PMID:Simon 2016:27432940}" "" "F" "yes" "" "" "0" "" "" "Palestinian" ""
"00081745" "" "" "" "1" "" "00015" "{PMID:Simon 2016:27432940}" "" "M" "yes" "" "" "0" "" "" "Palestinian" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00081744" "00115"
"00081745" "00115"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00115, 06081
## 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}}"
"0000061385" "00115" "00081744" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000061386" "00115" "00081745" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
## 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}}"
"0000081874" "00081744" "1" "00015" "00015" "2016-10-21 22:34:52" "" "" "SEQ" "DNA" "" ""
"0000081875" "00081745" "1" "00015" "00015" "2016-10-21 22:40:47" "" "" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000081874" "OBFC1"
"0000081875" "OBFC1"
## 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 = 8
"{{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}}"
"0000132577" "3" "90" "10" "105659873" "105659873" "subst" "0" "00015" "OBFC1_000001" "g.105659873C>G" "" "{PMID:Simon 2016:27432940}" "" "" "" "Germline" "yes" "" "0" "" "" "g.103900115C>G" "" "pathogenic" ""
"0000132578" "3" "90" "10" "105658747" "105658747" "subst" "4.06616E-6" "00015" "OBFC1_000002" "g.105658747C>A" "" "{PMID:Simon 2016:27432940}" "" "" "" "Germline" "yes" "" "0" "" "" "g.103898989C>A" "" "pathogenic" ""
"0000321760" "0" "30" "10" "105670354" "105670354" "subst" "5.29463E-5" "01804" "OBFC1_000003" "g.105670354T>C" "" "" "" "OBFC1(NM_024928.4):c.160A>G (p.(Ile54Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103910596T>C" "" "likely benign" ""
"0000722658" "0" "30" "10" "105664861" "105664861" "subst" "4.06312E-6" "01943" "OBFC1_000004" "g.105664861C>T" "" "" "" "STN1(NM_024928.5):c.283G>A (p.E95K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000804281" "0" "50" "10" "105659935" "105659937" "del" "0" "01943" "OBFC1_000005" "g.105659935_105659937del" "" "" "" "STN1(NM_024928.5):c.343_345delAAG (p.K115del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000804282" "0" "30" "10" "105664861" "105664861" "subst" "4.06312E-6" "02326" "OBFC1_000004" "g.105664861C>T" "" "" "" "STN1(NM_024928.5):c.283G>A (p.E95K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888980" "0" "30" "10" "105657372" "105657372" "subst" "0.000146316" "02326" "OBFC1_000006" "g.105657372C>T" "" "" "" "STN1(NM_024928.5):c.687G>A (p.L229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929638" "0" "30" "10" "105677204" "105677204" "subst" "0" "02326" "OBFC1_000007" "g.105677204G>A" "" "" "" "STN1(NM_024928.5):c.133+16C>T" "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 OBFC1
## Count = 8
"{{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}}"
"0000132577" "00014986" "90" "404" "0" "404" "0" "c.404G>C" "r.(?)" "p.(Arg135Thr)" "5"
"0000132578" "00014986" "90" "469" "0" "469" "0" "c.469G>T" "r.(?)" "p.(Asp157Tyr)" "6"
"0000321760" "00014986" "30" "160" "0" "160" "0" "c.160A>G" "r.(?)" "p.(Ile54Val)" ""
"0000722658" "00014986" "30" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Glu95Lys)" ""
"0000804281" "00014986" "50" "343" "0" "345" "0" "c.343_345del" "r.(?)" "p.(Lys115del)" ""
"0000804282" "00014986" "30" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Glu95Lys)" ""
"0000888980" "00014986" "30" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Leu229=)" ""
"0000929638" "00014986" "30" "133" "16" "133" "16" "c.133+16C>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000081874" "0000132577"
"0000081875" "0000132578"