### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PARL) # 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}}" "PARL" "presenilin associated, rhomboid-like" "3" "q27.3" "unknown" "NC_000003.11" "UD_138431477175" "" "" "" "1" "1" "18253" "55486" "607858" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; 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 21:46:20" "" "" "" "" "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 = 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}}" "00001024" "PARL" "transcript variant X5" "001" "XM_005247586.1" "" "XP_005247643.1" "" "" "" "-383" "1454" "612" "183585727" "183543522" "00001" "2013-11-12 21:53:06" "" "" "" "3" "00001025" "PARL" "transcript variant X4" "002" "XM_005247585.1" "" "XP_005247642.1" "" "" "" "-54" "1872" "1035" "183602688" "183543527" "00001" "2013-11-12 21:53:06" "" "" "" "3" "00001026" "PARL" "transcript variant X2" "003" "XM_005247583.1" "" "XP_005247640.1" "" "" "" "-55" "1919" "1083" "183602689" "183543528" "00001" "2013-11-12 21:53:06" "" "" "" "3" "00001027" "PARL" "transcript variant X1" "004" "XM_005247582.1" "" "XP_005247639.1" "" "" "" "-55" "2018" "1185" "183602689" "183543531" "00001" "2013-11-12 21:53:06" "" "" "" "3" "00001028" "PARL" "transcript variant 2" "005" "NM_001037639.1" "" "NP_001032728.1" "" "" "" "-59" "1203" "990" "183602693" "183547173" "00001" "2013-11-12 21:53:06" "" "" "" "3" "00001029" "PARL" "transcript variant 1" "006" "NM_018622.5" "" "NP_061092.3" "" "" "" "-59" "1353" "1140" "183602693" "183547173" "00001" "2013-11-12 21:53:06" "" "" "" "3" "00001030" "PARL" "transcript variant X3" "007" "XM_005247584.1" "" "XP_005247641.1" "" "" "" "-55" "1249" "1038" "183602689" "183547175" "00001" "2013-11-12 21:53:06" "" "" "" "3" "00001031" "PARL" "transcript variant X6" "008" "XM_005247587.1" "" "XP_005247644.1" "" "" "" "-383" "778" "567" "183585727" "183547175" "00001" "2013-11-12 21:53:06" "" "" "" "3" ## 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