Full data view for gene KCNQ1

Information The variants shown are described using the NM_000218.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? - c.760G>A r.(?) p.(Val254Met) Paternal (inferred) - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - PubMed: Riuro 2014 - - Unknown yes - - - - DNA SEQ - - LQT - PubMed: Riuro 2014 3-generation family, 3 affecteds - - - - - - - - 3 Johan den Dunnen
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - G4807 2-generation family, 5M, 5F - - France - - - - - 10 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - B0226 2-generation family, 4M, 0F - - France - - - - - 4 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - G10601 2-generation family, 0M, 3F - - France - - - - - 3 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - B0171 2-generation family, 0M, 2F - - France - - - - - 2 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - B0282 2-generation family, 1M, 2F - - France - - - - - 3 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - B0322 2-generation family, 2M, 1F - - France - - - - - 3 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - G11227 2-generation family, 4M, 3F - - France - - - - - 7 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam63 3-generation family, 1M, 5F - - Germany - - - - - 6 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam268 2-generation family, 1M, 2F - - Japan - - - - - 3 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam1129 2-generation family, 1M, 1F - - Japan - - - - - 2 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam148 2-generation family, 2M, 0F - - Japan - - - - - 2 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam152 2-generation family, 1M, 2F - - Japan - - - - - 3 Hideki Itoh
+/. 5 c.760G>A r.(?) p.(Val254Met) Unknown - pathogenic g.2593319G>A g.2572089G>A G760A - KCNQ1_000019 data from Inherited Arrhythmias web site PubMed: Wang 1996 - - Germline - - - - - DNA SEQ - - LQT1;RWS 8528244-? PubMed: Wang 1996 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 5 c.760G>A r.(?) p.(Val254Met) Unknown - pathogenic g.2593319G>A g.2572089G>A G760A - KCNQ1_000019 data from Inherited Arrhythmias web site PubMed: Donger 1997 - - Germline - - - - - DNA SEQ - - LQT1;RWS 9386136-? PubMed: Donger 1997 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 5 c.760G>A r.(?) p.(Val254Met) Unknown - pathogenic g.2593319G>A g.2572089G>A G760A - KCNQ1_000019 data from Inherited Arrhythmias web site PubMed: Paulussen 2003 - - Germline - - - - - DNA SEQ - - LQT1;RWS 12820704-? PubMed: Paulussen 2003 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 5 c.760G>A r.(?) p.(Val254Met) Unknown - pathogenic g.2593319G>A g.2572089G>A G760A - KCNQ1_000019 data from Inherited Arrhythmias web site PubMed: Choi 2004 - - Germline - - - - - DNA SEQ - - LQT1;RWS 15466642-Pat10 PubMed: Choi 2004 - F - United States - - - - - 1 Johan den Dunnen
+/. 5 c.760G>A r.(?) p.(Val254Met) Unknown - pathogenic g.2593319G>A g.2572089G>A G760A - KCNQ1_000019 data from Inherited Arrhythmias web site PubMed: Struijk 2006 - - Germline - - - - - DNA SEQ - - LQT1;RWS 16937190-? PubMed: Struijk 2006 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 5 c.760G>A r.(?) p.(Val254Met) Unknown - pathogenic g.2593319G>A g.2572089G>A G760A - KCNQ1_000019 data from Inherited Arrhythmias web site PubMed: Wedekind 1997 - - Germline - - - - - DNA SEQ - - LQT1;RWS 11535573-? PubMed: Wedekind 1997 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 5 c.760G>A r.(?) p.(Val254Met) Unknown - pathogenic g.2593319G>A g.2572089G>A V254M - KCNQ1_000019 - PubMed: Choi 2004 - - Germline - - - - - DNA SEQ - - LQT1;RWS 15466642-Pat11 PubMed: Choi 2004 - F - United States - - - - - 1 Johan den Dunnen
+/. 5 c.760G>A r.(?) p.(Val254Met) Unknown - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - PubMed: Tester 2005 - - Germline - 2/541 cases LQT - - - DNA SEQ - - LQT 15840505-Pat PubMed: Tester 2005 541 LQT cases - - United States - - - - - 2 Johan den Dunnen
+/+ 5 c.760G>A r.(?) p.(Val254Met) Parent #1 - pathogenic g.2593319G>A g.2572089G>A - - KCNQ1_000019 - MORL Deafness Variation Database, PubMed: Wang 1996, PubMed: Venner 1992, PubMed: Alders 1993, PubMed: Shimizu 2004, PubMed: Splawski 2000, PubMed: Donger 1997, PubMed: Moss 2007, PubMed: Wedekind 2004, PubMed: Struijk 2006, PubMed: Barsheshet 2012, PubMed: Green 2013 125, PubMed: Kapa 2009, PubMed: Wang 1999, PubMed: Shigemizu 2015, PubMed: ACMG Board of Directors. 2015, PubMed: Priori 2013, PubMed: Choi 2004, PubMed: Paulussen 2003, PubMed: Zareba 2003, PubMed: Tester 2005, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Wang 1996, PubMed: Venner 1992, PubMed: Alders 1993, PubMed: Shimizu 2004, PubMed: Splawski 2000, PubMed: Donger 1997, PubMed: Moss 2007, PubMed: Wedekind 2004, PubMed: Struijk 2006, PubMed: Barsheshet 2012, PubMed: Green 2013 125, PubMed: Kapa 2009, PubMed: Wang 1999, PubMed: Shigemizu 2015, PubMed: ACMG Board of Directors. 2015, PubMed: Priori 2013, PubMed: Choi 2004, PubMed: Paulussen 2003, PubMed: Zareba 2003, PubMed: Tester 2005, PubMed: Kapplinger 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
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