### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CRY1) # 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}}" "CRY1" "cryptochrome 1 (photolyase-like)" "12" "q23-q24.1" "unknown" "NC_000012.11" "UD_136086387874" "" "https://www.LOVD.nl/CRY1" "" "1" "2384" "1407" "601933" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-04-11 20:36:32" "00000" "2024-08-28 13:16:32" ## 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}}" "00005706" "CRY1" "cryptochrome 1 (photolyase-like)" "001" "NM_004075.4" "" "NP_004066.1" "" "" "" "-896" "2399" "1761" "107487635" "107385142" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05261" "DSPD" "sleep phase, delayed, disorder (DSPD)" "" "" "" "" "" "00006" "2017-04-11 20:39:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CRY1" "05261" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00103233" "" "" "" "6" "" "00006" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "4-generation family, 5 affecteds (4F, M), 1 probably affected (M)" "F" "no" "United States" "" "0" "" "" "" "28388406-FamPatTAU11" "00103237" "" "" "" "5" "" "00006" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "4-generation family, 3 affecteds (3F), 2 probably affected (F, M)" "F;M" "no" "Turkey" "" "0" "" "" "" "28388406-FamDSPD-1" "00103238" "" "" "" "20" "" "00006" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "4-generation family, 17 affecteds (8F, 9M), 3 probably affected (F, 2M)" "F;M" "yes" "Turkey" "" "0" "" "" "" "28388406-FamDSPD-4" "00103239" "" "" "00103238" "8" "" "00006" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "8 homozygous cases" "F;M" "yes" "Turkey" "" "0" "" "" "" "28388406-FamDSPD-4" "00103240" "" "" "" "10" "" "00006" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "4-generation family, 7 affecteds (3F, 4M), 2 probably affected (F, M), 1 probably not affected (M)" "F;M" "no" "Turkey" "" "0" "" "" "" "28388406-FamDSPD-6" "00103241" "" "" "" "2" "" "00006" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "3-generation family, 1 affected (F), 1 probably affected (F)" "F" "no" "Turkey" "" "0" "" "" "" "28388406-FamDSPD-7" "00103242" "" "" "" "1" "" "00006" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "3-generation family, 1 affected (M)" "M" "no" "Turkey" "" "0" "" "" "" "28388406-FamDSPD-9" "00103243" "" "" "" "4" "" "00006" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "3-generation family, 3 affecteds (2F, M), 1 probably affected (F)" "F;M" "no" "Turkey" "" "0" "" "" "" "28388406-FamDSPD-14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00103233" "05261" "00103237" "05261" "00103238" "05261" "00103239" "05261" "00103240" "05261" "00103241" "05261" "00103242" "05261" "00103243" "05261" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05261 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000081316" "05261" "00103233" "00006" "Familial, autosomal dominant" "46y" "see paper; ..., DSPD based on a sleep history, diagnostic interview, chronotype questionnaires, actigraphy combined with sleep log" "" "" "" "" "" "" "" "" "0000081318" "05261" "00103237" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "0000081319" "05261" "00103238" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "0000081320" "05261" "00103239" "00006" "Familial, autosomal dominant" "" "see paper; phenotype similar to heterozygous cases, …" "" "" "" "" "" "" "" "" "0000081321" "05261" "00103240" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "0000081322" "05261" "00103241" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "0000081323" "05261" "00103242" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "0000081324" "05261" "00103243" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000103688" "00103233" "1" "00006" "00006" "2017-04-11 20:49:38" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000103692" "00103237" "1" "00006" "00006" "2017-04-11 21:54:44" "" "" "SEQ" "DNA" "" "" "0000103693" "00103238" "1" "00006" "00006" "2017-04-11 21:54:44" "" "" "SEQ" "DNA" "" "" "0000103694" "00103239" "1" "00006" "00006" "2017-04-11 21:54:44" "" "" "SEQ" "DNA" "" "" "0000103695" "00103240" "1" "00006" "00006" "2017-04-11 21:54:44" "" "" "SEQ" "DNA" "" "" "0000103696" "00103241" "1" "00006" "00006" "2017-04-11 21:54:44" "" "" "SEQ" "DNA" "" "" "0000103697" "00103242" "1" "00006" "00006" "2017-04-11 21:54:44" "" "" "SEQ" "DNA" "" "" "0000103698" "00103243" "1" "00006" "00006" "2017-04-11 21:54:44" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000103688" "CRY1" "0000103692" "CRY1" "0000103693" "CRY1" "0000103694" "CRY1" "0000103695" "CRY1" "0000103696" "CRY1" "0000103697" "CRY1" "0000103698" "CRY1" ## 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 = 9 "{{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}}" "0000167170" "1" "90" "12" "107386740" "107386740" "subst" "0.00463095" "00006" "CRY1_000001" "g.107386740T>G" "" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "" "" "variant protein detected on WB" "Germline" "yes" "rs184039278" "0" "" "" "g.106992962T>G" "" "pathogenic" "" "0000167174" "1" "90" "12" "107386740" "107386740" "subst" "0.00463095" "00006" "CRY1_000001" "g.107386740T>G" "" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "" "" "variant protein detected on WB" "Germline" "yes" "rs184039278" "0" "" "" "g.106992962T>G" "" "pathogenic" "" "0000167175" "1" "90" "12" "107386740" "107386740" "subst" "0.00463095" "00006" "CRY1_000001" "g.107386740T>G" "" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "" "" "variant protein detected on WB" "Germline" "yes" "rs184039278" "0" "" "" "g.106992962T>G" "" "pathogenic" "" "0000167176" "3" "90" "12" "107386740" "107386740" "subst" "0.00463095" "00006" "CRY1_000001" "g.107386740T>G" "" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "" "" "variant protein detected on WB" "Germline" "yes" "rs184039278" "0" "" "" "g.106992962T>G" "" "pathogenic" "" "0000167177" "1" "90" "12" "107386740" "107386740" "subst" "0.00463095" "00006" "CRY1_000001" "g.107386740T>G" "" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "" "" "variant protein detected on WB" "Germline" "yes" "rs184039278" "0" "" "" "g.106992962T>G" "" "pathogenic" "" "0000167178" "1" "90" "12" "107386740" "107386740" "subst" "0.00463095" "00006" "CRY1_000001" "g.107386740T>G" "" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "" "" "variant protein detected on WB" "Germline" "yes" "rs184039278" "0" "" "" "g.106992962T>G" "" "pathogenic" "" "0000167179" "1" "90" "12" "107386740" "107386740" "subst" "0.00463095" "00006" "CRY1_000001" "g.107386740T>G" "" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "" "" "variant protein detected on WB" "Germline" "yes" "rs184039278" "0" "" "" "g.106992962T>G" "" "pathogenic" "" "0000167180" "1" "90" "12" "107386740" "107386740" "subst" "0.00463095" "00006" "CRY1_000001" "g.107386740T>G" "" "{PMID:Patke 2017:28388406}, {DOI:Patke 2017:10.1016/j.cell.2017.03.027}" "" "" "variant protein detected on WB" "Germline" "yes" "rs184039278" "0" "" "" "g.106992962T>G" "" "pathogenic" "" "0000999586" "0" "30" "12" "107386740" "107386740" "subst" "0.00463095" "01804" "CRY1_000001" "g.107386740T>G" "" "" "" "CRY1(NM_004075.4):c.1657+3A>C (p.?)" "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 CRY1 ## Count = 9 "{{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}}" "0000167170" "00005706" "90" "1657" "3" "1657" "3" "c.1657+3A>C" "r.1586_1657del" "p.Ser529_Gly553delinsArg" "11i" "0000167174" "00005706" "90" "1657" "3" "1657" "3" "c.1657+3A>C" "r.(1586_1657del)" "p.(Ser529_Gly553delinsArg)" "11i" "0000167175" "00005706" "90" "1657" "3" "1657" "3" "c.1657+3A>C" "r.(1586_1657del)" "p.(Ser529_Gly553delinsArg)" "11i" "0000167176" "00005706" "90" "1657" "3" "1657" "3" "c.1657+3A>C" "r.(1586_1657del)" "p.(Ser529_Gly553delinsArg)" "11i" "0000167177" "00005706" "90" "1657" "3" "1657" "3" "c.1657+3A>C" "r.(1586_1657del)" "p.(Ser529_Gly553delinsArg)" "11i" "0000167178" "00005706" "90" "1657" "3" "1657" "3" "c.1657+3A>C" "r.(1586_1657del)" "p.(Ser529_Gly553delinsArg)" "11i" "0000167179" "00005706" "90" "1657" "3" "1657" "3" "c.1657+3A>C" "r.(1586_1657del)" "p.(Ser529_Gly553delinsArg)" "11i" "0000167180" "00005706" "90" "1657" "3" "1657" "3" "c.1657+3A>C" "r.(1586_1657del)" "p.(Ser529_Gly553delinsArg)" "11i" "0000999586" "00005706" "30" "1657" "3" "1657" "3" "c.1657+3A>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000103688" "0000167170" "0000103692" "0000167174" "0000103693" "0000167175" "0000103694" "0000167176" "0000103695" "0000167177" "0000103696" "0000167178" "0000103697" "0000167179" "0000103698" "0000167180"