### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNQ1OT1) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "KCNQ1OT1" "KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)" "11" "p15.5" "maternal" "NG_016178.2" "UD_134061835547" "" "https://www.LOVD.nl/KCNQ1OT1" "" "1" "6295" "10984" "604115" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00008" "2012-06-25 00:00:00" "00006" "2021-07-01 09:14:27" "00000" "2021-09-17 14:40:49" ## 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}}" "00000239" "KCNQ1OT1" "KCNQ1 overlapping transcript 1 (non-protein coding)" "001" "NR_002728.2" "" "" "" "" "" "1" "59461" "59461" "2721228" "2661768" "00008" "2012-06-25 12:10:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00231" "BWS" "Beckwith-Wiedemann syndrome (BWS)" "AD" "130650" "" "" "" "00006" "2013-10-09 19:27:53" "00006" "2021-12-10 21:51:32" "00232" "SRS;RSS" "Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))" "AD" "180860" "" "" "" "00006" "2013-10-09 19:30:21" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KCNQ1OT1" "00139" "KCNQ1OT1" "00231" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00080096" "" "" "" "2" "" "01594" "{PMID:Crescenzo 2013:23243085}, for EUCID-SRS consortium" "family, 2 affected fetuses, fetus 1 affected similarly" "-" "" "" "<00y00m" "0" "" "" "" "23243085-Fet2" "00290370" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00332518" "" "" "" "1" "" "00006" "{PMID:Eggermann 2021:32447323}" "2-generation family, 1 affected" "F" "no" "Germany" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00080096" "00198" "00080096" "00232" "00290370" "00198" "00332518" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00231, 00232, 04184 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Mouth/Cleft_palate}}" "{{Phenotype/Kidney/Anomaly}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Face/Shape}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000082730" "00232" "00080096" "01594" "Unknown" "" "" "" "nr" "" "nr" "" "" "" "" "" "nr" "small" "" "" "" "" "nr" "nr" "SRS n/a (Netchine Harbison-Score 1/1)" "Severe IUGR" "" "0000250702" "04184" "00332518" "00006" "Familial" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "growth retardation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080184" "00080096" "1" "01594" "00008" "2016-09-01 17:30:25" "" "" "arrayCNV; FISH; SEQ" "DNA" "" "" "0000291538" "00290370" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000333742" "00332518" "1" "00006" "00006" "2021-02-19 17:38:40" "00006" "2021-02-19 17:45:08" "MLPA-ms;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000333742" "KCNQ1OT1" ## 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 = 23 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000129122" "11" "90" "11" "2679858" "2739436" "del" "0" "01594" "KCNQ1_000755" "g.2679858_2739436del" "" "{PMID:Crescenzo 2013:23243085}, for EUCID-SRS consortium" "" "arr[hg19] 11p15.5 (2,684,979-2,737,280)x1 pat" "" "Germline" "" "" "0" "" "arr[hg19] 11p15.5 (2,684,979-2,737,280)x1 pat.seq 11p15.5(2,679,858-2,739,436)del" "g.2658628_2718206del" "" "pathogenic" "" "0000250799" "0" "30" "11" "2683273" "2683273" "subst" "0.0000649841" "02326" "KCNQ1_000143" "g.2683273A>G" "" "" "" "KCNQ1(NM_000218.2):c.1476A>G (p.E492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2662043A>G" "" "likely benign" "" "0000254018" "0" "30" "11" "2683273" "2683273" "subst" "0.0000649841" "01943" "KCNQ1_000143" "g.2683273A>G" "" "" "" "KCNQ1(NM_000218.2):c.1476A>G (p.E492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2662043A>G" "" "likely benign" "" "0000278405" "0" "10" "11" "2683177" "2683177" "subst" "0.0107827" "02330" "KCNQ1_000766" "g.2683177C>T" "" "" "" "KCNQ1(NM_000218.2):c.1394-14C>T, KCNQ1OT1(NR_002728.3):n.38052G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2661947C>T" "" "benign" "" "0000278406" "0" "30" "11" "2683236" "2683240" "del" "0" "02330" "KCNQ1OT1_000001" "g.2683236_2683240del" "" "" "" "KCNQ1(NM_000218.2):c.1439_1443delTGAGA (p.M480Nfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2662006_2662010del" "" "likely benign" "" "0000278407" "0" "50" "11" "2683246" "2683246" "subst" "0" "02330" "KCNQ1OT1_000002" "g.2683246C>A" "" "" "" "KCNQ1(NM_000218.2):c.1449C>A (p.N483K, p.(Asn483Lys)), KCNQ1OT1(NR_002728.3):n.37983G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2662016C>A" "" "VUS" "" "0000278408" "0" "10" "11" "2683252" "2683252" "subst" "0.00515045" "02330" "KCNQ1OT1_000003" "g.2683252C>T" "" "" "" "KCNQ1(NM_000218.2):c.1455C>T (p.F485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2662022C>T" "" "benign" "" "0000278409" "0" "10" "11" "2683329" "2683329" "subst" "0.00951773" "02330" "KCNQ1OT1_000004" "g.2683329C>T" "" "" "" "KCNQ1(NM_000218.2):c.1514+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2662099C>T" "" "benign" "" "0000278410" "0" "10" "11" "2683318" "2683318" "subst" "0.0000812572" "02330" "KCNQ1_000975" "g.2683318G>T" "" "" "" "KCNQ1(NM_000218.2):c.1514+7G>T, KCNQ1OT1(NR_002728.3):n.37911C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2662088G>T" "" "benign" "" "0000285566" "0" "10" "11" "2683177" "2683177" "subst" "0.0107827" "02326" "KCNQ1_000766" "g.2683177C>T" "" "" "" "KCNQ1(NM_000218.2):c.1394-14C>T, KCNQ1OT1(NR_002728.3):n.38052G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2661947C>T" "" "benign" "" "0000321947" "0" "50" "11" "2683246" "2683246" "subst" "0" "01804" "KCNQ1OT1_000002" "g.2683246C>A" "" "" "" "KCNQ1(NM_000218.2):c.1449C>A (p.N483K, p.(Asn483Lys)), KCNQ1OT1(NR_002728.3):n.37983G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2662016C>A" "" "VUS" "" "0000543660" "0" "10" "11" "2683177" "2683177" "subst" "0.0107827" "02327" "KCNQ1_000766" "g.2683177C>T" "" "" "" "KCNQ1(NM_000218.2):c.1394-14C>T, KCNQ1OT1(NR_002728.3):n.38052G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2661947C>T" "" "benign" "" "0000543661" "0" "10" "11" "2683178" "2683179" "del" "0" "02327" "KCNQ1_001096" "g.2683178_2683179del" "" "" "" "KCNQ1(NM_000218.2):c.1394-13_1394-12delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2661948_2661949del" "" "benign" "" "0000543662" "0" "10" "11" "2683178" "2683179" "del" "0" "02330" "KCNQ1_001096" "g.2683178_2683179del" "" "" "" "KCNQ1(NM_000218.2):c.1394-13_1394-12delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2661948_2661949del" "" "benign" "" "0000543664" "0" "10" "11" "2683273" "2683273" "subst" "0.0000649841" "02330" "KCNQ1_000143" "g.2683273A>G" "" "" "" "KCNQ1(NM_000218.2):c.1476A>G (p.E492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2662043A>G" "" "benign" "" "0000543665" "0" "50" "11" "2683305" "2683305" "subst" "0" "02330" "KCNQ1_001100" "g.2683305T>C" "" "" "" "KCNQ1(NM_000218.2):c.1508T>C (p.I503T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2662075T>C" "" "VUS" "" "0000543666" "0" "30" "11" "2683318" "2683318" "subst" "0.0000812572" "01943" "KCNQ1_000975" "g.2683318G>T" "" "" "" "KCNQ1(NM_000218.2):c.1514+7G>T, KCNQ1OT1(NR_002728.3):n.37911C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2662088G>T" "" "likely benign" "" "0000613298" "0" "10" "11" "2683252" "2683252" "subst" "0.00515045" "02327" "KCNQ1OT1_000003" "g.2683252C>T" "" "" "" "KCNQ1(NM_000218.2):c.1455C>T (p.F485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2662022C>T" "" "benign" "" "0000613299" "0" "30" "11" "2683318" "2683318" "subst" "0.0000812572" "02327" "KCNQ1_000975" "g.2683318G>T" "" "" "" "KCNQ1(NM_000218.2):c.1514+7G>T, KCNQ1OT1(NR_002728.3):n.37911C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2662088G>T" "" "likely benign" "" "0000648227" "1" "70" "11" "2683190" "2683190" "subst" "0.00000406141" "03575" "KCNQ1_001339" "g.2683190G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs775537394}" "Germline" "" "rs775537394" "0" "" "" "g.2661960G>T" "" "likely pathogenic" "" "0000679162" "0" "30" "11" "2683309" "2683309" "subst" "0" "01943" "KCNQ1_001400" "g.2683309A>C" "" "" "" "KCNQ1(NM_000218.2):c.1512A>C (p.S504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000731530" "11" "70" "11" "2720964" "2721095" "del" "0" "00006" "KCNQ1OT1_000005" "g.2720964_2721095del" "" "{PMID:Eggermann 2021:32447323}" "" "" "father unaffected (hypomethylation maternal allele)" "Germline" "" "" "0" "hypermethylation" "" "g.2699734_2699865del" "" "pathogenic (paternal)" "" "0000805080" "0" "30" "11" "2683258" "2683258" "subst" "0" "01943" "KCNQ1OT1_000006" "g.2683258G>C" "" "" "" "KCNQ1(NM_000218.2):c.1461G>C (p.E487D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes KCNQ1OT1 ## Count = 23 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000129122" "00000239" "50" "1" "0" "41371" "0" "n.-18208_41371del" "r.(?)" "-" "" "0000250799" "00000239" "30" "37956" "0" "37956" "0" "n.37956T>C" "r.(?)" "-" "" "0000254018" "00000239" "30" "37956" "0" "37956" "0" "n.37956T>C" "r.(?)" "-" "" "0000278405" "00000239" "10" "38052" "0" "38052" "0" "n.38052G>A" "r.(?)" "-" "" "0000278406" "00000239" "30" "37990" "0" "37994" "0" "n.37990_37994del" "r.(?)" "-" "" "0000278407" "00000239" "50" "37983" "0" "37983" "0" "n.37983G>T" "r.(?)" "-" "" "0000278408" "00000239" "10" "37977" "0" "37977" "0" "n.37977G>A" "r.(?)" "-" "" "0000278409" "00000239" "10" "37900" "0" "37900" "0" "n.37900G>A" "r.(?)" "-" "" "0000278410" "00000239" "10" "37911" "0" "37911" "0" "n.37911C>A" "r.(?)" "-" "" "0000285566" "00000239" "10" "38052" "0" "38052" "0" "n.38052G>A" "r.(?)" "-" "" "0000321947" "00000239" "50" "37983" "0" "37983" "0" "n.37983G>T" "r.(?)" "-" "" "0000543660" "00000239" "10" "38052" "0" "38052" "0" "n.38052G>A" "r.(?)" "-" "" "0000543661" "00000239" "10" "38053" "0" "38054" "0" "n.38053_38054del" "r.(?)" "-" "" "0000543662" "00000239" "10" "38053" "0" "38054" "0" "n.38053_38054del" "r.(?)" "-" "" "0000543664" "00000239" "10" "37956" "0" "37956" "0" "n.37956T>C" "r.(?)" "-" "" "0000543665" "00000239" "50" "37924" "0" "37924" "0" "n.37924A>G" "r.(?)" "-" "" "0000543666" "00000239" "30" "37911" "0" "37911" "0" "n.37911C>A" "r.(?)" "-" "" "0000613298" "00000239" "10" "37977" "0" "37977" "0" "n.37977G>A" "r.(?)" "-" "" "0000613299" "00000239" "30" "37911" "0" "37911" "0" "n.37911C>A" "r.(?)" "-" "" "0000648227" "00000239" "70" "38039" "0" "38039" "0" "n.38039C>A" "" "-" "" "0000679162" "00000239" "30" "37920" "0" "37920" "0" "n.37920T>G" "r.(?)" "-" "" "0000731530" "00000239" "70" "134" "0" "265" "0" "n.134_265del" "r.(?)" "-" "" "0000805080" "00000239" "30" "37971" "0" "37971" "0" "n.37971C>G" "r.(?)" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000080184" "0000129122" "0000291538" "0000648227" "0000333742" "0000731530"