### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = D2HGDH) # 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}}" "D2HGDH" "D-2-hydroxyglutarate dehydrogenase" "2" "p25.3" "unknown" "NC_000002.11" "UD_132118474754" "" "" "" "1" "1" "28358" "728294" "609186" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "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 = 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}}" "00000692" "D2HGDH" "D-2-hydroxyglutarate dehydrogenase" "001" "NM_152783.3" "" "NP_689996.4" "" "" "" "-173" "2413" "1566" "242674030" "242708231" "00001" "2013-11-12 21:37:20" "" "" "" "2" ## 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 = 4 "{{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}}" "0000002887" "0" "99" "2" "242681939" "242681939" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 01:21:24" "D2HGDH_000004" "g.242681939T>G" "" "{PMID:15609246:15609246};{PMID:7609436:7609436}" "" "rs121434361" "subst" "0" "; clinvar;" "5.060" "" "" "" "" "MSCV_0002887" "" "0000002888" "0" "99" "2" "242690786" "242690786" "subst" "35" "0.0000769349" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 01:21:34" "D2HGDH_000001" "g.242690786G>T" "" "{PMID:16081310:16081310}" "" "rs267606759" "subst" "0" "; clinvar;" "5.100" "" "" "" "" "MSCV_0002888" "" "0000002889" "0" "99" "2" "242707133" "242707133" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 01:21:10" "D2HGDH_000002" "g.242707133A>G" "" "{PMID:16037974:16037974}" "" "rs121434362" "subst" "0" "; clinvar;" "4.450" "" "" "" "" "MSCV_0002889" "" "0000002890" "0" "99" "2" "242707149" "242707149" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 01:21:00" "D2HGDH_000003" "g.242707149T>C" "" "{PMID:15609246:15609246}" "" "rs121434360" "subst" "0" "; clinvar;" "4.450" "" "" "" "" "MSCV_0002890" "" ## 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 = 4 "{{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}}" "0000002887" "00000692" "99" "440" "0" "440" "0" "c.440T>G" "4/11" "p.(Ile147Ser)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002888" "00000692" "99" "1123" "0" "1123" "0" "c.1123G>T" "8/10" "p.(Asp375Tyr)" "r.(?)" "probably_damaging(0.987)" "" "missense_variant" "" "" "deleterious(0)" "0000002889" "00000692" "99" "1315" "0" "1315" "0" "c.1315A>G" "10/10" "p.(Asn439Asp)" "r.(?)" "probably_damaging(0.957)" "" "missense_variant" "" "" "deleterious(0.02)" "0000002890" "00000692" "99" "1331" "0" "1331" "0" "c.1331T>C" "10/10" "p.(Val444Ala)" "r.(?)" "benign(0.259)" "" "missense_variant" "" "" "deleterious(0.01)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0