### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GJC2) # 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}}" "GJC2" "gap junction protein, gamma 2, 47kDa" "1" "q41-q42" "unknown" "NG_011838.1" "UD_139400165450" "" "" "" "1" "1" "17494" "57165" "608803" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:08:57" "" "" "00000" "2014-04-18 19:08:57" "" ## 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}}" "00003278" "GJC2" "gap junction protein, gamma 2, 47kDa" "001" "NM_020435.3" "" "NP_065168.2" "" "" "" "-313" "2068" "1320" "228337415" "228347527" "00000" "2014-04-18 19:08:57" "" "" "" "" ## 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 = 5 "{{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}}" "0000001777" "0" "99" "1" "228345727" "228345727" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-05-13 12:02:37" "GJC2_000005" "g.228345727C>T" "" "{PMID:15192806:15192806};{PMID:17344063:17344063}" "" "rs74315312" "subst" "0" "; clinvar;" "3.300" "" "" "" "" "MSCV_0001777" "" "0000001778" "0" "99" "1" "228346177" "228346177" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-05-13 12:02:35" "GJC2_000001" "g.228346177C>T" "" "{PMID:15192806:15192806};{PMID:17344063:17344063}" "" "rs74315313" "subst" "0" "; clinvar;" "3.120" "" "" "" "" "MSCV_0001778" "" "0000001779" "0" "99" "1" "228346246" "228346246" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-05-13 12:02:36" "GJC2_000002" "g.228346246G>A" "" "{PMID:22669416:22669416}" "" "rs397514734" "subst" "0" "; clinvar;" "3.940" "" "" "" "" "MSCV_0001779" "" "0000001780" "0" "99" "1" "228346273" "228346273" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2020-05-08 11:37:43" "GJC2_000003" "g.228346273T>G" "" "{PMID:17344063:17344063};{PMID:15192806:15192806}" "" "rs74315314" "subst" "0" "; clinvar;" "3.940" "" "" "" "" "MSCV_0001780" "" "0000001781" "0" "99" "1" "228346316" "228346316" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-05-13 12:02:36" "GJC2_000004" "g.228346316T>C" "" "{PMID:15192806:15192806};{PMID:17344063:17344063}" "" "rs74315311" "subst" "0" "; clinvar;" "3.940" "" "" "" "" "MSCV_0001781" "" ## 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 = 5 "{{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}}" "0000001777" "00003278" "99" "268" "0" "268" "0" "c.268C>T" "2/2" "p.(=)" "r.(=)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001778" "00003278" "99" "718" "0" "718" "0" "c.718C>T" "2/2" "p.(=)" "r.(=)" "-" "" "stop_gained" "" "" "-" "0000001779" "00003278" "99" "787" "0" "787" "0" "c.787G>A" "2/2" "p.(=)" "r.(=)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000001780" "00003278" "99" "814" "0" "814" "0" "c.814T>G" "2/2" "p.(=)" "r.(=)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000001781" "00003278" "99" "857" "0" "857" "0" "c.857T>C" "2/2" "p.(=)" "r.(=)" "probably_damaging(0.954)" "" "missense_variant" "" "" "deleterious(0)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0