### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLRN1) # 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}}" "CLRN1" "clarin 1" "3" "q21-q25" "unknown" "NC_000003.11" "UD_132085348394" "" "" "" "1" "1" "12605" "7401" "606397" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:06:38" "" "" "00000" "2013-11-26 22:06:38" "" ## 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}}" "00003126" "CLRN1" "transcript variant 1" "002" "NM_174878.2" "" "NP_777367.1" "" "" "" "-291" "2068" "699" "150644354" "150690786" "00000" "2013-11-26 22:06:38" "" "" "" "3" ## 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}}" "00160" "500004" "RETINITIS PIGMENTOSA-DEAFNESS SYNDROME " "500004" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CLRN1" "00160" ## 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 = 36 "{{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}}" "0000000960" "0" "99" "3" "150659434" "150659434" "subst" "35" "0.000230663" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 11:02:14" "CLRN1_000005" "g.150659434G>T" "" "{PMID:17407589:17407589};{PMID:19753315:19753315}" "" "rs374963432" "subst" "0" "; clinvar;" "5.100" "" "" "" "" "MSCV_0000960" "" "0000000961" "0" "99" "3" "150659497" "150659501" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:34:35" "CLRN1_000004" "g.150659497_150659501del" "" "{PMID:21675857:21675857}" "" "rs397517932" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000961" "" "0000000962" "0" "99" "3" "150690307" "150690307" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 11:18:50" "CLRN1_000001" "g.150690307G>T" "" "{PMID:15521980:15521980};{PMID:12080385:12080385}" "" "rs111033267" "subst" "0" "; clinVar; Ensembl;" "-4.370" "" "" "" "" "MSCV_0000962" "" "0000000963" "0" "99" "3" "150690352" "150690352" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:54:09" "CLRN1_000002" "g.150690352A>C" "" "{PMID:12080385:12080385};{PMID:18281613:18281613};{PMID:12145752:12145752};{PMID:14569126:14569126};{PMID:19423712:19423712}" "" "rs111033258" "subst" "0" "; clinVar; Ensembl;" "-5.150" "" "" "" "" "MSCV_0000963" "" "0000000964" "0" "77" "3" "150690369" "150690369" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:50:13" "CLRN1_000003" "g.150690369C>T" "" "" "" "rs111033434" "subst" "0" "; clinVar; Ensembl;" "5.350" "" "" "" "" "MSCV_0000964" "" "0000020506" "0" "55" "3" "150644392" "150644392" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:12:50" "CLRN1_000035" "g.150644392G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020506" "" "0000020507" "0" "55" "3" "150644393" "150644393" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:10:33" "CLRN1_000023" "g.150644393A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020507" "" "0000020508" "0" "55" "3" "150644558" "150644558" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:04:47" "CLRN1_000024" "g.150644558G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020508" "" "0000020509" "0" "55" "3" "150644684" "150644684" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:35:03" "CLRN1_000025" "g.150644684T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020509" "" "0000020510" "0" "55" "3" "150644685" "150644685" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:09:59" "CLRN1_000026" "g.150644685C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020510" "" "0000020511" "0" "33" "3" "150644759" "150644759" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:01:13" "CLRN1_000027" "g.150644759G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020511" "" "0000020512" "0" "33" "3" "150644839" "150644839" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:02:57" "CLRN1_000028" "g.150644839T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020512" "" "0000020513" "0" "55" "3" "150644867" "150644867" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:11:08" "CLRN1_000029" "g.150644867C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020513" "" "0000020514" "0" "55" "3" "150645298" "150645298" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:10:42" "CLRN1_000030" "g.150645298C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020514" "" "0000020515" "0" "11" "3" "150645351" "150645351" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:35:21" "CLRN1_000031" "g.150645351G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020515" "" "0000020516" "0" "11" "3" "150645408" "150645408" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:19:12" "CLRN1_000032" "g.150645408G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020516" "" "0000020517" "0" "55" "3" "150645416" "150645416" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:49:30" "CLRN1_000011" "g.150645416C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020517" "" "0000020518" "0" "11" "3" "150645418" "150645419" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:33:23" "CLRN1_000033" "g.150645418_150645419insAC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020518" "" "0000020519" "0" "11" "3" "150645418" "150645419" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:52:48" "CLRN1_000034" "g.150645418_150645419insACAC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020519" "" "0000020520" "0" "11" "3" "150645419" "150645420" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:59:31" "CLRN1_000009" "g.150645419_150645420del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020520" "" "0000020521" "0" "00" "3" "150645419" "150645422" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:48:11" "CLRN1_000012" "g.150645419_150645422del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020521" "" "0000020522" "0" "00" "3" "150645419" "150645424" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:01:07" "CLRN1_000010" "g.150645419_150645424del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020522" "" "0000020523" "0" "55" "3" "150645446" "150645446" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:05:46" "CLRN1_000013" "g.150645446C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020523" "" "0000020524" "0" "33" "3" "150645447" "150645448" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:03:16" "CLRN1_000008" "g.150645447_150645448del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020524" "" "0000020525" "0" "33" "3" "150645448" "150645448" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-05-03 04:22:26" "CLRN1_000014" "g.150645448T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020525" "" "0000020526" "0" "55" "3" "150645608" "150645608" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:34:40" "CLRN1_000007" "g.150645608C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020526" "" "0000020527" "0" "55" "3" "150645633" "150645633" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:01:49" "CLRN1_000015" "g.150645633T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020527" "" "0000020528" "0" "77" "3" "150645762" "150645762" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:11:19" "CLRN1_000016" "g.150645762G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020528" "" "0000020529" "0" "55" "3" "150645949" "150645949" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:33:53" "CLRN1_000017" "g.150645949T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020529" "" "0000020530" "0" "77" "3" "150690352" "150690352" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:49:39" "CLRN1_000002" "g.150690352A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000963" "" "0000020531" "0" "33" "3" "150690439" "150690439" "subst" "35" "0.111948" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:53:14" "CLRN1_000018" "g.150690439T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020531" "" "0000020532" "0" "33" "3" "150690490" "150690490" "subst" "35" "0.043749" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:06:45" "CLRN1_000019" "g.150690490T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020532" "" "0000020533" "0" "33" "3" "150690566" "150690566" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-11 16:24:28" "CLRN1_000020" "g.150690566T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020533" "" "0000020534" "0" "55" "3" "150690577" "150690577" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:35:15" "CLRN1_000006" "g.150690577A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020534" "" "0000020535" "0" "55" "3" "150690769" "150690769" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:52:52" "CLRN1_000021" "g.150690769T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020535" "" "0000020536" "0" "55" "3" "150690784" "150690784" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:13:49" "CLRN1_000022" "g.150690784C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020536" "" ## 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 = 36 "{{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}}" "0000000960" "00003126" "99" "368" "0" "368" "0" "c.368C>A" "2/3" "p.(Ala123Asp)" "r.(?)" "probably_damaging(0.958)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000961" "00003126" "99" "305" "0" "301" "0" "c.301_305del" "" "p.(Val101Serfs*27)" "r.(?)" "" "" "" "" "" "-" "0000000962" "00003126" "99" "189" "0" "189" "0" "c.189C>A" "1/3" "p.(Tyr63*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000963" "00003126" "99" "144" "0" "144" "0" "c.144T>G" "1/3" "p.(Asn48Lys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000964" "00003126" "77" "127" "0" "127" "0" "c.127G>A" "1/3" "p.(Gly43Arg)" "r.(?)" "probably_damaging(0.969)" "" "missense_variant" "" "" "deleterious(0)" "0000020506" "00003126" "00" "2030" "0" "2030" "0" "c.*1331C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020507" "00003126" "00" "2029" "0" "2029" "0" "c.*1330T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020508" "00003126" "00" "1864" "0" "1864" "0" "c.*1165C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020509" "00003126" "00" "1738" "0" "1738" "0" "c.*1039A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020510" "00003126" "00" "1737" "0" "1737" "0" "c.*1038G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020511" "00003126" "00" "1663" "0" "1663" "0" "c.*964C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020512" "00003126" "00" "1583" "0" "1583" "0" "c.*884A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020513" "00003126" "00" "1555" "0" "1555" "0" "c.*856G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020514" "00003126" "00" "1124" "0" "1124" "0" "c.*425G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020515" "00003126" "00" "1071" "0" "1071" "0" "c.*372C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020516" "00003126" "00" "1014" "0" "1014" "0" "c.*315C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020517" "00003126" "00" "1006" "0" "1006" "0" "c.*307G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020518" "00003126" "00" "1003" "0" "1004" "0" "c.*304_*305insGT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020519" "00003126" "00" "1003" "0" "1004" "0" "c.*304_*305insGTGT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020520" "00003126" "00" "1002" "0" "1003" "0" "c.*303_*304del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020521" "00003126" "00" "1000" "0" "1003" "0" "c.*301_*304del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020522" "00003126" "00" "998" "0" "1003" "0" "c.*299_*304del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020523" "00003126" "00" "976" "0" "976" "0" "c.*277G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020524" "00003126" "00" "974" "0" "975" "0" "c.*275_*276del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020525" "00003126" "00" "974" "0" "974" "0" "c.*275A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020526" "00003126" "00" "814" "0" "814" "0" "c.*115G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020527" "00003126" "00" "789" "0" "789" "0" "c.*90A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020528" "00003126" "00" "660" "0" "660" "0" "c.660C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020529" "00003126" "00" "473" "0" "473" "0" "c.473A>G" "" "p.(Glu158Gly)" "r.(?)" "" "" "" "" "" "-" "0000020530" "00003126" "00" "144" "0" "144" "0" "c.144T>G" "" "p.(Asn48Lys)" "r.(?)" "" "" "" "" "" "-" "0000020531" "00003126" "00" "57" "0" "57" "0" "c.57A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020532" "00003126" "00" "6" "0" "6" "0" "c.6A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020533" "00003126" "00" "-71" "0" "-71" "0" "c.-71A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020534" "00003126" "00" "-82" "0" "-82" "0" "c.-82T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020535" "00003126" "00" "-274" "0" "-274" "0" "c.-274A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020536" "00003126" "00" "-289" "0" "-289" "0" "c.-289G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0