### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HAO2) # 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}}" "HAO2" "hydroxyacid oxidase 2 (long chain)" "1" "p13.3-p13.1" "unknown" "NC_000001.10" "UD_138455191536" "" "" "" "1" "1" "4810" "51179" "605176" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 15:44:54" "" "" "" "" "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 = 8 "{{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}}" "00002016" "HAO2" "transcript variant X3" "001" "XM_005270915.1" "" "XP_005270972.1" "" "" "" "-316" "1385" "1095" "119911399" "119936753" "00001" "2013-11-15 15:45:30" "" "" "" "1" "00002017" "HAO2" "transcript variant X1" "002" "XM_005270913.1" "" "XP_005270970.1" "" "" "" "-316" "1315" "1263" "119911399" "119936753" "00001" "2013-11-15 15:45:30" "" "" "" "1" "00002018" "HAO2" "transcript variant X5" "003" "XM_005270917.1" "" "XP_005270974.1" "" "" "" "-316" "1175" "885" "119911399" "119936753" "00001" "2013-11-15 15:45:30" "" "" "" "1" "00002019" "HAO2" "transcript variant X4" "004" "XM_005270916.1" "" "XP_005270973.1" "" "" "" "-316" "1105" "1053" "119911399" "119936753" "00001" "2013-11-15 15:45:30" "" "" "" "1" "00002020" "HAO2" "transcript variant X2" "005" "XM_005270914.1" "" "XP_005270971.1" "" "" "" "-316" "1240" "1188" "119911399" "119936753" "00001" "2013-11-15 15:45:30" "" "" "" "1" "00002021" "HAO2" "transcript variant X6" "006" "XM_005270918.1" "" "XP_005270975.1" "" "" "" "-316" "1489" "642" "119911399" "119928656" "00001" "2013-11-15 15:45:30" "" "" "" "1" "00002022" "HAO2" "transcript variant 2" "007" "NM_001005783.1" "" "NP_001005783.1" "" "" "" "-352" "1344" "1056" "119911402" "119936751" "00001" "2013-11-15 15:45:30" "" "" "" "1" "00002023" "HAO2" "transcript variant 1" "008" "NM_016527.2" "" "NP_057611.1" "" "" "" "-132" "1344" "1056" "119911402" "119936751" "00001" "2013-11-15 15:45:30" "" "" "" "1" ## 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 = 0 ## 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 = 0 ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0