### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IDH2) # 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}}" "IDH2" "isocitrate dehydrogenase 2 (NADP+), mitochondrial" "15" "q26.1" "unknown" "NC_000015.9" "UD_138431414417" "" "" "" "1" "1" "5383" "3418" "147650" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00000829" "IDH2" "transcript variant X2" "001" "XM_005254894.1" "" "XP_005254951.1" "" "" "" "-240" "2184" "969" "90645730" "90626283" "00001" "2013-11-12 21:42:27" "" "" "" "15" "00000830" "IDH2" "transcript variant X1" "002" "XM_005254893.1" "" "XP_005254950.1" "" "" "" "-156" "2418" "1203" "90643922" "90626283" "00001" "2013-11-12 21:42:27" "" "" "" "15" "00000831" "IDH2" "isocitrate dehydrogenase 2 (NADP+), mitochondrial" "003" "NM_002168.2" "" "NP_002159.2" "" "" "" "-86" "1647" "1359" "90645708" "90627210" "00001" "2013-11-12 21:42:27" "" "" "" "15" ## 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}}" "00101" "613657" "D-2-hydroxyglutaric aciduria 2, 613657 (3)" "613657" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IDH2" "00101" ## 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}}" "0000000612" "0" "99" "15" "90631934" "90631934" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 18:08:21" "IDH2_000001" "g.90631934C>T" "" "{PMID:20171147:20171147};{PMID:20847235:20847235};{PMID:23558173:23558173};{PMID:24049096:24049096}" "" "rs121913502" "subst" "0" "; clinVar; Ensembl;" "4.750" "" "" "" "" "MSCV_0000612" "" "0000000613" "0" "99" "15" "90631935" "90631935" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-07-27 08:20:07" "IDH2_000002" "g.90631935G>C" "" "{PMID:20847235:20847235}" "" "rs267606870" "subst" "0" "; clinVar; Ensembl;" "3.650" "" "" "" "" "MSCV_0000613" "" "0000017782" "0" "33" "15" "90628537" "90628537" "subst" "35" "0.0458716" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-06-12 05:08:49" "IDH2_000003" "g.90628537G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017782" "" "0000017783" "0" "99" "15" "90631934" "90631934" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:34:05" "IDH2_000001" "g.90631934C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000612" "" "0000017784" "0" "99" "15" "90631935" "90631935" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-03 05:18:03" "IDH2_000002" "g.90631935G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000613" "" "0000017785" "0" "33" "15" "90633702" "90633702" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-18 08:42:23" "IDH2_000004" "g.90633702C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017785" "" "0000025169" "0" "00" "15" "90645600" "90645600" "subst" "35" "0.000668896" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-28 12:51:21" "IDH2_000005" "g.90645600A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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 = 21 "{{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}}" "0000000612" "00000829" "99" "29" "0" "29" "0" "c.29G>A" "2/9" "p.(Arg10Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000612" "00000830" "99" "263" "0" "263" "0" "c.263G>A" "4/11" "p.(Arg88Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000612" "00000831" "99" "419" "0" "419" "0" "c.419G>A" "4/11" "p.(Arg140Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000613" "00000829" "99" "28" "0" "28" "0" "c.28C>G" "2/9" "p.(Arg10Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000613" "00000830" "99" "262" "0" "262" "0" "c.262C>G" "4/11" "p.(Arg88Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000613" "00000831" "99" "418" "0" "418" "0" "c.418C>G" "4/11" "p.(Arg140Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000017782" "00000829" "00" "660" "0" "660" "0" "c.660C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017782" "00000830" "00" "894" "0" "894" "0" "c.894C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017782" "00000831" "00" "1050" "0" "1050" "0" "c.1050C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017783" "00000829" "00" "29" "0" "29" "0" "c.29G>A" "" "p.(Arg10Gln)" "r.(?)" "" "" "" "" "" "-" "0000017783" "00000830" "00" "263" "0" "263" "0" "c.263G>A" "" "p.(Arg88Gln)" "r.(?)" "" "" "" "" "" "-" "0000017783" "00000831" "00" "419" "0" "419" "0" "c.419G>A" "" "p.(Arg140Gln)" "r.(?)" "" "" "" "" "" "-" "0000017784" "00000829" "00" "28" "0" "28" "0" "c.28C>G" "" "p.(Arg10Gly)" "r.(?)" "" "" "" "" "" "-" "0000017784" "00000830" "00" "262" "0" "262" "0" "c.262C>G" "" "p.(Arg88Gly)" "r.(?)" "" "" "" "" "" "-" "0000017784" "00000831" "00" "418" "0" "418" "0" "c.418C>G" "" "p.(Arg140Gly)" "r.(?)" "" "" "" "" "" "-" "0000017785" "00000829" "00" "-17" "-1723" "-17" "-1723" "c.-17-1723G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017785" "00000830" "00" "217" "9" "217" "9" "c.217+9G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017785" "00000831" "00" "373" "9" "373" "9" "c.373+9G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025169" "00000829" "00" "-110" "0" "-110" "0" "c.-110T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025169" "00000830" "00" "-156" "-1678" "-156" "-1678" "c.-1834T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025169" "00000831" "00" "23" "0" "23" "0" "c.23T>C" "" "p.(Val8Ala)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0