### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LCA5) # 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}}" "LCA5" "Leber congenital amaurosis 5" "6" "q14" "unknown" "NC_000006.11" "UD_132118692932" "" "" "" "1" "1" "31923" "167691" "611408" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-12-10 21:14:26" "" "" "00000" "2013-12-10 21:14:26" "" ## 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}}" "00003198" "LCA5" "transcript variant 1" "002" "NM_181714.3" "" "NP_859065.2" "" "" "" "-612" "4107" "2094" "80194708" "80247147" "00000" "2013-12-10 21:14:26" "" "" "" "6" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 3 "{{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}}" "0000001196" "0" "55" "6" "80197338" "80197339" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-03-15 10:41:41" "LCA5_000003" "g.80197338_80197339insT" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0001196" "" "0000001197" "0" "99" "6" "80198881" "80198881" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-03-15 11:19:34" "LCA5_000001" "g.80198881del" "" "" "" "" "del" "0" ";" "3.860" "" "" "" "" "MSCV_0001197" "" "0000001198" "0" "99" "6" "80203353" "80203353" "subst" "35" "0.000230663" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-03-15 12:13:02" "LCA5_000002" "g.80203353G>A" "" "{PMID:17546029:17546029};{PMID:20301475:20301475}" "" "rs121918165" "subst" "0" "; clinvar; ensembl;" "5.560" "" "" "" "" "MSCV_0001198" "" ## 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 = 3 "{{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}}" "0000001196" "00003198" "55" "1477" "0" "1476" "0" "c.1476_1477insA" "" "p.(Pro493Thrfs*2)" "r.(?)" "" "" "" "" "" "-" "0000001197" "00003198" "55" "1151" "0" "1151" "0" "c.1151del" "" "p.(Pro384Glnfs*18)" "r.(?)" "" "" "" "" "" "-" "0000001198" "00003198" "99" "835" "0" "835" "0" "c.835C>T" "5/9" "p.(Gln279*)" "r.(?)" "-" "" "stop_gained" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0