### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNJ11) # 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}}" "KCNJ11" "potassium inwardly-rectifying channel, subfamily J, member 11" "11" "p15.1" "unknown" "NC_000011.9" "UD_132118877787" "" "" "" "1" "1" "6257" "3767" "600937" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "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 = 2 "{{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}}" "00000840" "KCNJ11" "transcript variant 2" "001" "NM_001166290.1" "" "NP_001159762.1" "" "" "" "-174" "2583" "912" "17410878" "17406795" "00001" "2013-11-12 21:46:31" "" "" "" "11" "00000841" "KCNJ11" "transcript variant 1" "002" "NM_000525.3" "" "NP_000516.3" "" "" "" "-568" "2844" "1173" "17410206" "17406795" "00001" "2013-11-12 21:46:31" "" "" "" "11" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00102" "NIDDM" "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "125853" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KCNJ11" "00102" ## 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 = 7 "{{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}}" "0000000282" "0" "11" "11" "17409572" "17409572" "subst" "35" "0.738103" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-05-01 05:35:18" "KCNJ11_000001" "g.17409572T>C" "" "{PMID:12540638:12540638};{PMID:15579791:15579791};{PMID:19685080:19685080};{PMID:11318841:11318841};{PMID:12540637:12540637};{PMID:15111507:15111507};{PMID:11692183:11692183};{PMID:15797964:15797964};{PMID:17463246:17463246};{PMID:17463249:17463249};{PMID" "" "rs5219" "subst" "0" "; clinVar; Ensembl;" "4.300" "" "" "" "" "MSCV_0000282" "" "0000016386" "0" "99" "11" "17408671" "17408672" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:04:09" "KCNJ11_000008" "g.17408671_17408672insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016386" "" "0000016387" "0" "33" "11" "17409572" "17409572" "subst" "35" "0.738103" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:27:44" "KCNJ11_000001" "g.17409572T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000282" "" "0000016388" "0" "00" "11" "17409592" "17409592" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:27:48" "KCNJ11_000007" "g.17409592C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016388" "" "0000024090" "0" "00" "11" "17408623" "17408623" "subst" "35" "0.000077006" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:22:03" "KCNJ11_000011" "g.17408623A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024091" "0" "00" "11" "17408666" "17408666" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:48:57" "KCNJ11_000009" "g.17408666G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024092" "0" "00" "11" "17408795" "17408795" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:49:05" "KCNJ11_000010" "g.17408795C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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 = 14 "{{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}}" "0000000282" "00000840" "11" "-16" "-179" "-16" "-179" "c.-16-179A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000282" "00000841" "11" "67" "0" "67" "0" "c.67A>G" "1/1" "p.(Lys23Glu)" "r.(?)" "benign(0)" "" "missense_variant" "" "" "tolerated(0.17)" "0000016386" "00000840" "00" "706" "0" "707" "0" "c.706_707insG" "" "p.(Asp236Glyfs*28)" "r.(?)" "" "" "" "" "" "-" "0000016386" "00000841" "00" "967" "0" "968" "0" "c.967_968insG" "" "p.(Asp323Glyfs*28)" "r.(?)" "" "" "" "" "" "-" "0000016387" "00000840" "00" "-16" "-179" "-16" "-179" "c.-16-179A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016387" "00000841" "00" "67" "0" "67" "0" "c.67A>G" "" "p.(Lys23Glu)" "r.(?)" "" "" "" "" "" "-" "0000016388" "00000840" "00" "-16" "-199" "-16" "-199" "c.-16-199G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016388" "00000841" "00" "47" "0" "47" "0" "c.47G>A" "" "p.(Arg16His)" "r.(?)" "" "" "" "" "" "-" "0000024090" "00000840" "00" "755" "0" "755" "0" "c.755T>G" "" "p.(Val252Gly)" "r.(?)" "" "" "" "" "" "-" "0000024090" "00000841" "00" "1016" "0" "1016" "0" "c.1016T>G" "" "p.(Val339Gly)" "r.(?)" "" "" "" "" "" "-" "0000024091" "00000840" "00" "712" "0" "712" "0" "c.712C>A" "" "p.(Arg238Ser)" "r.(?)" "" "" "" "" "" "-" "0000024091" "00000841" "00" "973" "0" "973" "0" "c.973C>A" "" "p.(Arg325Ser)" "r.(?)" "" "" "" "" "" "-" "0000024092" "00000840" "00" "583" "0" "583" "0" "c.583G>A" "" "p.(Glu195Lys)" "r.(?)" "" "" "" "" "" "-" "0000024092" "00000841" "00" "844" "0" "844" "0" "c.844G>A" "" "p.(Glu282Lys)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0