### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTEN) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "PTEN" "phosphatase and tensin homolog" "10" "q23.31" "unknown" "LRG_311" "UD_144432659885" "" "" "" "1" "9588" "5728" "601728" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-01-10 11:14:48" "" "" "00005" "2021-09-01 15:13:42" ## 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}}" "00000098" "PTEN" "transcript variant 1" "001" "NM_000314.6" "" "NP_000305.3" "" "" "" "-1032" "7670" "1212" "87863438" "87971930" "00001" "2021-01-10 11:14:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023" "-" "Gliomas" "" "" "brain" "" "" "00001" "2020-11-16 12:25:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PTEN" "00023" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000338" "" "" "" "1" "" "00002" "{PMID:N Zainuddin et al. (2004):15779579}" "" "" "Malaysia" "" "" "M" "00000339" "" "" "" "1" "" "00002" "{PMID:N Zainuddin et al. (2004):15779579}" "" "" "Malaysia" "" "" "F" "00000340" "" "" "" "1" "" "00002" "{PMID:Jafri Malin Abdullah et al. (2006):17098662}" "" "" "Malaysia" "Malay" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000338" "00023" "00000339" "00023" "00000340" "00023" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00023 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000353" "00000338" "1" "00002" "00002" "2021-01-10 11:24:07" "" "" "PCRm" "DNA" "0000000354" "00000339" "1" "00002" "00002" "2021-01-10 12:23:37" "" "" "PCRm" "DNA" "0000000355" "00000340" "1" "00002" "00002" "2021-01-10 14:38:32" "" "" "PCR;SSCA" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000000353" "PTEN" "0000000354" "PTEN" "0000000355" "PTEN" ## 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 = 12 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001576" "0" "90" "10" "87952143" "87952143" "subst" "0" "00002" "PTEN_000001" "g.87952143G>A" "2/14" "{PMID:N Zainuddin et al. (2004):15779579}, {dbSNP:rs121913294}, {ClinVar:376032}" "" "" "rs121913294" "0000001577" "0" "90" "10" "87933147" "87933147" "subst" "0" "00002" "PTEN_000002" "g.87933147C>T" "2/14" "{PMID:N Zainuddin et al. (2004):15779579}, {dbSNP:rs121909224}, {ClinVar:7819}" "" "" "rs121909224" "0000001578" "0" "90" "10" "87933073" "87933073" "subst" "0" "00002" "PTEN_000003" "g.87933073G>C" "1/14" "{PMID:N Zainuddin et al. (2004):15779579}, {dbSNP:rs780083983}, {ClinVar: 734687}" "" "" "rs780083983" "0000001579" "0" "90" "10" "87952142" "87952142" "subst" "0" "00002" "PTEN_000004" "g.87952142C>T" "2/14" "{PMID:N Zainuddin et al. (2004):15779579}, {dbSNP:rs121913293}, {ClinVar:189500}" "" "" "rs121913293" "0000001580" "0" "90" "10" "87933129" "87933129" "subst" "0" "00002" "PTEN_000005" "g.87933129T>A" "1/14" "{PMID:N Zainuddin et al. (2004):15779579}, {dbSNP:rs121909223}, {ClinVar:824108}" "" "" "rs121909223" "0000001581" "0" "90" "10" "87952136" "87952136" "subst" "0" "00002" "PTEN_000006" "g.87952136C>T" "1/9" "{PMID:N Zainuddin et al. (2004):15779579}, {dbSNP:rs786204864}, {ClinVar:189411}" "" "" "rs786204864" "0000001582" "0" "90" "10" "87933147" "87933147" "subst" "0" "00002" "PTEN_000002" "g.87933147C>T" "2/37" "{PMID:Jafri Malin Abdullah et al. (2006):17098662}, {dbSNP:rs121909224}, {ClinVar:7819}" "" "" "rs121909224" "0000001583" "0" "30" "10" "87933073" "87933073" "subst" "0" "00002" "PTEN_000003" "g.87933073G>C" "1/37" "{PMID:Jafri Malin Abdullah et al. (2006):17098662}, {dbSNP: rs780083983}, {ClinVar:734687}" "" "" "rs780083983" "0000001584" "0" "70" "10" "87933129" "87933129" "subst" "0" "00002" "PTEN_000005" "g.87933129T>A" "1/37" "{PMID:Jafri Malin Abdullah et al. (2006):17098662}, {dbSNP:rs121909223}, {ClinVar:824108}" "" "" "rs121909223" "0000001585" "0" "70" "10" "87952143" "87952143" "subst" "0" "00002" "PTEN_000001" "g.87952143G>A" "2/37" "{PMID:Jafri Malin Abdullah et al. (2006):17098662}, {dbSNP:rs121913294}, {ClinVar:824108}" "" "" "rs121913294" "0000001586" "0" "90" "10" "87952136" "87952136" "subst" "0" "00002" "PTEN_000006" "g.87952136C>T" "1/37" "{PMID:Jafri Malin Abdullah et al. (2006):17098662}, {dbSNP:rs786204864}, {ClinVar:189411}" "" "" "rs786204864" "0000001587" "0" "90" "10" "87952142" "87952142" "subst" "0" "00002" "PTEN_000004" "g.87952142C>T" "2/37" "{PMID:Jafri Malin Abdullah et al. (2006):17098662}, {dbSNP:rs121913293}, {ClinVar:189500}" "" "" "rs121913293" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes PTEN ## Count = 12 "{{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/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001576" "00000098" "90" "518" "0" "518" "0" "c.518G>A" "6" "p.(Arg173His)" "r.(?)" "" "" "{ClinVar:376032}" "0000001577" "00000098" "90" "388" "0" "388" "0" "c.388C>T" "5" "p.(Arg130*)" "r.(?)" "" "" "{ClinVar:7819}" "0000001578" "00000098" "90" "314" "0" "314" "0" "c.314G>C" "5" "p.(Cys105Ser)" "r.(?)" "" "" "{ClinVar: 734687}" "0000001579" "00000098" "90" "517" "0" "517" "0" "c.517C>T" "6" "p.(Arg173Cys)" "r.(?)" "" "" "{ClinVar:189500}" "0000001580" "00000098" "90" "370" "0" "370" "0" "c.370T>A" "5" "p.(Cys124Ser)" "r.(?)" "" "" "{ClinVar:824108}" "0000001581" "00000098" "90" "511" "0" "511" "0" "c.511C>T" "6" "p.(Gln171*)" "r.(?)" "" "" "{ClinVar:189411}" "0000001582" "00000098" "90" "388" "0" "388" "0" "c.388C>T" "5" "p.(Arg130*)" "r.(?)" "" "" "{ClinVar:7819}" "0000001583" "00000098" "30" "314" "0" "314" "0" "c.314G>C" "5" "p.(Cys105Ser)" "r.(?)" "" "" "{ClinVar:734687}" "0000001584" "00000098" "70" "370" "0" "370" "0" "c.370T>A" "5" "p.(Cys124Ser)" "r.(?)" "" "" "{ClinVar:824108}" "0000001585" "00000098" "70" "518" "0" "518" "0" "c.518G>A" "6" "p.(Arg173His)" "r.(?)" "" "" "{ClinVar:824108}" "0000001586" "00000098" "90" "511" "0" "511" "0" "c.511C>T" "6" "p.(Gln171*)" "r.(?)" "" "" "{ClinVar:189411}" "0000001587" "00000098" "90" "517" "0" "517" "0" "c.517C>T" "6" "p.(Arg173Cys)" "r.(?)" "" "" "{ClinVar:189500}" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000353" "0000001576" "0000000353" "0000001577" "0000000353" "0000001578" "0000000353" "0000001579" "0000000353" "0000001580" "0000000354" "0000001581" "0000000355" "0000001582" "0000000355" "0000001583" "0000000355" "0000001584" "0000000355" "0000001585" "0000000355" "0000001586" "0000000355" "0000001587"