### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDKAL1) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "CDKAL1" "CDK5 regulatory subunit associated protein 1-like 1" "6" "p22.2" "unknown" "NG_021195.1" "UD_139310703786" "" "" "" "1" "1" "21050" "54901" "611259" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-08-15 09:44:28" "" "" "00000" "2014-08-15 09:44:28" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003307" "CDKAL1" "CDK5 regulatory subunit associated protein 1-like 1" "001" "NM_017774.3" "" "NP_060244.2" "" "" "" "-167" "3105" "1740" "20534688" "21232635" "00000" "2014-08-15 09:44:28" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00102" "NIDDM" "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "125853" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CDKAL1" "00102" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 5 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000001168" "0" "77" "6" "20661034" "20661034" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:06:34" "CDKAL1_000002" "g.20661034A>C" "" "{PMID:17463248:17463248};{PMID:17463246:17463246};{PMID:17463249:17463249};{PMID:24760768:24760768}" "" "rs10946398" "subst" "0" "; clinvar;" "-1.720" "" "" "" "" "MSCV_0001168" "" "0000001169" "0" "77" "6" "20679709" "20679709" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:01:30" "CDKAL1_000001" "g.20679709A>G" "" "{PMID:17460697:17460697};{PMID:24760768:24760768}" "" "rs7756992" "subst" "0" "; clinvar;" "-0.470" "" "" "" "" "MSCV_0001169" "" "0000003304" "0" "55" "6" "20717255" "20717255" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-05-13 12:07:19" "CDKAL1_000003" "g.20717255T>C" "" "" "" "rs9465871" "subst" "0" "; Ensembl;" "-3.040" "" "" "" "" "MSCV_0003304" "" "0000021672" "0" "55" "6" "20661034" "20661034" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-27 06:53:03" "CDKAL1_000002" "g.20661034A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001168" "" "0000021673" "0" "55" "6" "20679709" "20679709" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:05:24" "CDKAL1_000001" "g.20679709A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001169" "" ## 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. ## Count = 5 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000001168" "00003307" "77" "371" "11426" "371" "11426" "c.371+11426A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001169" "00003307" "77" "371" "30101" "371" "30101" "c.371+30101A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003304" "00003307" "55" "372" "-22495" "372" "-22495" "c.372-22495T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021672" "00003307" "00" "371" "11426" "371" "11426" "c.371+11426A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021673" "00003307" "00" "371" "30101" "371" "30101" "c.371+30101A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0