### 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/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"