### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTCD2) # 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}}" "PTCD2" "pentatricopeptide repeat domain 2" "5" "q13.2" "unknown" "NC_000005.9" "UD_138455385798" "" "" "" "1" "1" "25734" "79810" "615484" "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 16:06:56" "" "" "" "" "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 = 6 "{{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}}" "00002686" "PTCD2" "transcript variant X5" "001" "XR_241790.1" "" "" "" "" "" "1" "2687" "2687" "71616200" "71656544" "00001" "2013-11-15 16:17:48" "" "" "" "5" "00002687" "PTCD2" "pentatricopeptide repeat domain 2" "002" "NM_024754.3" "" "NP_079030.3" "" "" "" "-10" "2093" "1167" "71616200" "71655180" "00001" "2013-11-15 16:17:48" "" "" "" "5" "00002688" "PTCD2" "transcript variant X1" "003" "XM_005248601.1" "" "XP_005248658.1" "" "" "" "-10" "1979" "1053" "71616200" "71655180" "00001" "2013-11-15 16:17:48" "" "" "" "5" "00002689" "PTCD2" "transcript variant X3" "004" "XM_005248603.1" "" "XP_005248660.1" "" "" "" "-328" "1637" "711" "71616208" "71655180" "00001" "2013-11-15 16:17:48" "" "" "" "5" "00002690" "PTCD2" "transcript variant X2" "005" "XM_005248602.1" "" "XP_005248659.1" "" "" "" "-1" "1766" "840" "71616209" "71655180" "00001" "2013-11-15 16:17:48" "" "" "" "5" "00002691" "PTCD2" "transcript variant X4" "006" "XM_005248604.1" "" "XP_005248661.1" "" "" "" "-307" "1577" "651" "71616222" "71655180" "00001" "2013-11-15 16:17:48" "" "" "" "5" ## 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