### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AKT2) # 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}}" "AKT2" "v-akt murine thymoma viral oncogene homolog 2" "19" "q13.1-q13.2" "unknown" "NC_000019.9" "UD_138297658014" "" "" "" "1" "1" "392" "208" "164731" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:10:47" "" "" "00000" "2013-11-26 22:10:47" "" ## 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}}" "00003137" "AKT2" "transcript variant 1" "003" "NM_001626.4" "" "NP_001617.1" "" "" "" "-299" "5001" "1446" "40736224" "40791302" "00000" "2013-11-26 22:10:47" "" "" "" "19" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00102" "NIDDM" "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "125853" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AKT2" "00102" ## 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}}" "0000000785" "0" "99" "19" "40743886" "40743886" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:10:19" "AKT2_000001" "g.40743886C>T" "" "{PMID:15166380:15166380};{PMID:19164855:19164855}" "" "rs121434593" "subst" "0" "; clinVar; Ensembl;" "4.010" "" "" "" "" "MSCV_0000785" "" "0000018731" "0" "11" "19" "40741862" "40741862" "subst" "35" "0.00192219" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:01:38" "AKT2_000005" "g.40741862C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018731" "" "0000018732" "0" "33" "19" "40742179" "40742179" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:01:39" "AKT2_000006" "g.40742179C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018732" "" "0000018733" "0" "99" "19" "40743886" "40743886" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:51:02" "AKT2_000001" "g.40743886C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000785" "" "0000018734" "0" "33" "19" "40747836" "40747836" "subst" "51" "0.00338305" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-11 02:33:29" "AKT2_000003" "g.40747836G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018734" "" "0000018735" "0" "33" "19" "40761070" "40761070" "subst" "35" "0.000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:51:05" "AKT2_000004" "g.40761070G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018735" "" "0000018736" "0" "33" "19" "40762915" "40762915" "subst" "35" "0.00284484" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-10-19 14:17:28" "AKT2_000002" "g.40762915G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018736" "" ## 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}}" "0000000785" "00003137" "99" "821" "0" "821" "0" "c.821G>A" "10/15" "p.(Arg274His)" "r.(?)" "benign(0.07)" "" "missense_variant" "" "" "deleterious(0.03)" "0000018731" "00003137" "00" "1110" "0" "1110" "0" "c.1110G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018732" "00003137" "00" "945" "0" "945" "0" "c.945G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018733" "00003137" "00" "821" "0" "821" "0" "c.821G>A" "" "p.(Arg274His)" "r.(?)" "" "" "" "" "" "-" "0000018734" "00003137" "00" "573" "9" "573" "9" "c.573+9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018735" "00003137" "00" "282" "0" "282" "0" "c.282C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018736" "00003137" "00" "93" "0" "93" "0" "c.93C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0