### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UROS) # 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}}" "UROS" "uroporphyrinogen III synthase" "10" "q25.2-q26.3" "unknown" "NC_000010.10" "UD_138431519355" "" "" "" "1" "1" "12592" "7390" "606938" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "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 = 7 "{{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}}" "00001280" "UROS" "transcript variant X3" "001" "XM_005270139.1" "" "XP_005270196.1" "" "" "" "-108" "978" "789" "127511679" "127474091" "00001" "2013-11-12 22:00:10" "" "" "" "10" "00001281" "UROS" "transcript variant X1" "002" "XM_005270137.1" "" "XP_005270194.1" "" "" "" "-108" "1170" "879" "127511679" "127477146" "00001" "2013-11-12 22:00:10" "" "" "" "10" "00001282" "UROS" "transcript variant X2" "003" "XM_005270138.1" "" "XP_005270195.1" "" "" "" "-26" "1089" "798" "127505094" "127477146" "00001" "2013-11-12 22:00:10" "" "" "" "10" "00001283" "UROS" "uroporphyrinogen III synthase" "004" "NM_000375.2" "" "NP_000366.1" "" "" "" "-266" "1088" "798" "127511837" "127477147" "00001" "2013-11-12 22:00:10" "" "" "" "10" "00001284" "UROS" "transcript variant X6" "005" "XR_246103.1" "" "" "" "" "" "1" "1265" "1265" "127511679" "127477150" "00001" "2013-11-12 22:00:10" "" "" "" "10" "00001285" "UROS" "transcript variant X4" "006" "XM_005270140.1" "" "XP_005270197.1" "" "" "" "-108" "762" "672" "127511679" "127482856" "00001" "2013-11-12 22:00:10" "" "" "" "10" "00001286" "UROS" "transcript variant X5" "007" "XM_005270141.1" "" "XP_005270198.1" "" "" "" "-26" "1362" "420" "127505094" "127490626" "00001" "2013-11-12 22:00:10" "" "" "" "10" ## 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