### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPE65) # 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}}" "RPE65" "retinal pigment epithelium-specific protein 65kDa" "1" "p31" "unknown" "NC_000001.10" "UD_132084408106" "" "" "" "1" "1" "10294" "6121" "180069" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-12-10 20:39:18" "" "" "00000" "2013-12-10 20:39:18" "" ## 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}}" "00003147" "RPE65" "retinal pigment epithelium-specific protein 65kDa" "001" "NM_000329.2" "" "NP_000320.1" "" "" "" "-54" "2554" "1602" "68894507" "68915642" "00000" "2013-12-10 20:39:18" "" "" "" "1" ## 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 = 7 "{{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}}" "0000000040" "0" "99" "1" "68895518" "68895518" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 01:10:29" "RPE65_000001" "g.68895518G>A" "" "{PMID:15557452:15557452}" "" "rs121917745" "subst" "0" ";" "3.140" "" "" "" "" "MSCV_0000040" "" "0000000041" "0" "99" "1" "68897011" "68897011" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 01:10:08" "RPE65_000002" "g.68897011T>C" "" "{PMID:14962443:14962443}" "" "rs62636300" "subst" "0" ";" "5.130" "" "" "" "" "MSCV_0000041" "" "0000000042" "0" "99" "1" "68903896" "68903896" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 01:10:22" "RPE65_000003" "g.68903896A>G" "" "{PMID:12960219:12960219};{PMID:13616783:13616783};{PMID:11786058:11786058}" "" "rs62653011" "subst" "0" ";" "5.710" "" "" "" "" "MSCV_0000042" "" "0000000043" "0" "99" "1" "68904716" "68904716" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 01:09:58" "RPE65_000004" "g.68904716T>A" "" "{PMID:14962443:14962443}" "" "rs61752904" "subst" "0" ";" "5.150" "" "" "" "" "MSCV_0000043" "" "0000000044" "0" "99" "1" "68905269" "68905269" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 01:10:12" "RPE65_000005" "g.68905269G>A" "" "{PMID:9326927:9326927}" "" "rs61752895" "subst" "0" ";" "5.800" "" "" "" "" "MSCV_0000044" "" "0000001817" "0" "99" "1" "68897002" "68897002" "subst" "35" "0.0256036" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 01:10:05" "RPE65_000007" "g.68897002G>A" "" "" "" "rs34627040" "subst" "0" "; clinvar; ensembl;" "5.130" "" "" "" "" "MSCV_0001817" "" "0000001820" "0" "11" "1" "68904660" "68904660" "subst" "35" "0.000768876" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-06-14 15:44:15" "RPE65_000006" "g.68904660A>C" "" "{PMID:19431183:19431183};{PMID:23757202:23757202}" "" "rs149916178" "subst" "0" "; clinvar; ensembl;" "-0.301" "" "" "" "" "MSCV_0001820" "" ## 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 = 7 "{{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}}" "0000000040" "00003147" "55" "1543" "0" "1543" "0" "c.1543C>T" "14/14" "p.(Arg515Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000041" "00003147" "55" "1292" "0" "1292" "0" "c.1292A>G" "12/14" "p.(Tyr431Cys)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000000042" "00003147" "55" "1102" "0" "1102" "0" "c.1102T>C" "10/14" "p.(Tyr368His)" "r.(?)" "benign(0.369)" "" "missense_variant" "" "" "deleterious(0)" "0000000043" "00003147" "55" "907" "0" "907" "0" "c.907A>T" "9/14" "p.(Lys303*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000044" "00003147" "55" "700" "0" "700" "0" "c.700C>T" "7/14" "p.(Arg234*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001817" "00003147" "99" "1301" "0" "1301" "0" "c.1301C>T" "12/14" "p.(Ala434Val)" "r.(?)" "benign(0.016)" "" "missense_variant" "" "" "tolerated(0.55)" "0000001820" "00003147" "11" "963" "0" "963" "0" "c.963T>G" "9/14" "p.(Asn321Lys)" "r.(?)" "benign(0.029)" "" "missense_variant" "" "" "tolerated(0.12)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0