### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLN) # 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}}" "PLN" "phospholamban" "6" "q22.1" "unknown" "LRG_390" "UD_139421423610" "" "" "" "1" "1" "9080" "5350" "172405" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:17:03" "" "" "00000" "2014-04-18 19:17:03" "" ## 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}}" "00003293" "PLN" "phospholamban" "001" "NM_002667.3" "" "NP_002658.1" "" "" "" "-211" "1503" "159" "118869442" "118881587" "00000" "2014-04-18 19:17:03" "" "" "" "" ## 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 = 3 "{{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}}" "0000003289" "0" "99" "6" "118880109" "118880109" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-10-21 22:01:16" "CEP85L_000003" "g.118880109C>T" "" "{PMID:12610310:12610310};{PMID:19139388:19139388};{PMID:21282613:21282613};{PMID:23308118:23308118};{PMID:18056057:18056057};{PMID:22427649:22427649};{PMID:22707725:22707725}" "" "rs111033559" "subst" "0" "; clinvar;" "4.840" "" "" "" "" "MSCV_0003289" "" "0000003290" "0" "55" "6" "118880121" "118880123" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-10-21 21:23:35" "CEP85L_000001" "g.118880121_118880123del" "" "{PMID:17010801:17010801};{PMID:19324307:19324307};{PMID:16432188:16432188};{PMID:22155237:22155237};{PMID:22427649:22427649};{PMID:22707725:22707725};{PMID:22820313:22820313};{PMID:23785128:23785128}" "" "rs397516784" "del" "0" ";" "" "" "" "" "" "MSCV_0003290" "" "0000003291" "0" "99" "6" "118880200" "118880200" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-10-21 16:19:49" "CEP85L_000002" "g.118880200T>G" "" "{PMID:12639993:12639993};{PMID:21167350:21167350};{PMID:23861362:23861362};{PMID:17655857:17655857}" "" "rs111033560" "subst" "0" "; clinvar;" "5.570" "" "" "" "" "MSCV_0003291" "" ## 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 = 3 "{{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}}" "0000003289" "00003293" "99" "25" "0" "25" "0" "c.25C>T" "2/2" "p.(Arg9Cys)" "r.(?)" "possibly_damaging(0.898)" "" "missense_variant" "" "" "-" "0000003290" "00003293" "55" "37" "0" "39" "0" "c.37_39del" "" "p.(Arg14del)" "r.(?)" "" "" "" "" "" "-" "0000003291" "00003293" "99" "116" "0" "116" "0" "c.116T>G" "2/2" "p.(Leu39*)" "r.(?)" "-" "" "stop_gained" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0