### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIK3CA) # 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}}" "PIK3CA" "phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha" "3" "q26.3" "unknown" "LRG_310" "UD_139212739774" "" "" "" "1" "1" "8975" "5290" "171834" "1" "1" "1" "" "" "" "" "1" "" "" "-1" "" "-1" "00000" "2014-08-18 12:57:34" "" "" "00000" "2014-08-18 12:57:34" "" ## 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}}" "00003324" "PIK3CA" "phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha" "002" "NM_006218.2" "" "NP_006209.2" "" "" "" "-157" "3555" "3207" "178866311" "178952500" "00000" "2014-08-18 12:57:34" "" "" "" "" ## 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 = 2 "{{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}}" "0000000970" "0" "99" "3" "178936092" "178936092" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-24 03:34:03" "PIK3CA_000001" "g.178936092A>C" "" "{PMID:15520168:15520168};{PMID:17673550:17673550};{PMID:15608678:15608678};{PMID:23246288:23246288}" "" "rs121913274" "subst" "0" ";" "5.780" "" "" "" "" "MSCV_0000970" "" "0000000971" "0" "99" "3" "178936092" "178936092" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 08:03:20" "PIK3CA_000002" "g.178936092A>G" "" "{PMID:15520168:15520168};{PMID:17673550:17673550};{PMID:15608678:15608678};{PMID:23246288:23246288}" "" "rs121913274" "subst" "0" ";" "5.780" "" "" "" "" "MSCV_0000971" "" ## 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 = 2 "{{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}}" "0000000970" "00003324" "00" "1634" "0" "1634" "0" "c.1634A>C" "10/21" "p.(Glu545Ala)" "r.(?)" "probably_damaging(0.965)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000971" "00003324" "55" "1634" "0" "1634" "0" "c.1634A>G" "10/21" "p.(Glu545Gly)" "r.(?)" "probably_damaging(0.989)" "" "missense_variant" "" "" "deleterious(0.01)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0