### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GUCY2D) # 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}}" "GUCY2D" "guanylate cyclase 2D, membrane (retina-specific)" "17" "p13.1" "unknown" "NC_000017.10" "UD_132084440650" "" "" "" "1" "1" "4689" "3000" "600179" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-12-10 20:46:49" "" "" "00000" "2013-12-10 20:46:49" "" ## 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}}" "00003152" "GUCY2D" "guanylate cyclase 2D, membrane (retina-specific)" "001" "NM_000180.3" "" "NP_000171.1" "" "" "" "-74" "3549" "3312" "7905988" "7923658" "00000" "2013-12-10 20:46:49" "" "" "" "17" ## 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 = 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}}" "0000000704" "0" "11" "17" "7906519" "7906519" "subst" "35" "0.20558" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-12-26 09:57:02" "GUCY2D_000004" "g.7906519G>T" "" "{PMID:8944027:8944027};{PMID:23757202:23757202}" "" "rs61749665" "subst" "0" "; clinvar; ensembl;" "0.187" "" "" "" "" "MSCV_0000704" "" "0000000705" "0" "99" "17" "7912849" "7912849" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:14" "GUCY2D_000001" "g.7912849T>C" "" "{PMID:8944027:8944027};{PMID:9888789:9888789}" "" "rs61749755" "subst" "0" "; clinvar; ensembl;" "4.670" "" "" "" "" "MSCV_0000705" "" "0000000706" "0" "00" "17" "7919768" "7919769" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:14" "GUCY2D_000002" "g.7919768_7919769insACCA" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000706" "" "0000000707" "0" "55" "17" "7919772" "7919773" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:15" "GUCY2D_000003" "g.7919772_7919773insACCA" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000707" "" "0000002676" "0" "33" "17" "7906529" "7906529" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:40:11" "GUCY2D_000005" "g.7906529C>T" "" "" "" "rs201414567" "subst" "0" "; ensembl;" "3.340" "" "" "" "" "MSCV_0002676" "" ## 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}}" "0000000704" "00003152" "11" "154" "0" "154" "0" "c.154G>T" "2/20" "p.(Ala52Ser)" "r.(?)" "benign(0.013)" "" "missense_variant" "" "" "tolerated(0.24)" "0000000705" "00003152" "99" "1694" "0" "1694" "0" "c.1694T>C" "8/20" "p.(Phe565Ser)" "r.(?)" "probably_damaging(0.969)" "" "missense_variant" "" "" "deleterious(0)" "0000000706" "00003152" "00" "3232" "0" "3233" "0" "c.3232_3233insACCA" "19/20" "p.(His1079Glnfs*54)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000000707" "00003152" "55" "3236" "0" "3237" "0" "c.3236_3237insACCA" "" "p.(His1079Glnfs*54)" "r.(?)" "" "" "" "" "" "-" "0000002676" "00003152" "77" "164" "0" "164" "0" "c.164C>T" "2/20" "p.(Thr55Met)" "r.(?)" "benign(0.354)" "" "missense_variant" "" "" "deleterious(0.01)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0