Full data view for gene KCNQ1

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

32 entries on 1 page. Showing entries 1 - 32.
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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     
+/. 1 c.332A>G r.(?) p.(Tyr111Cys) Parent #1 - pathogenic g.2466660A>G g.2445430A>G - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - B1334 2-generation family, 0M, 2F - - France - - - - - 2 Hideki Itoh
+/. 1 c.332A>G r.(?) p.(Tyr111Cys) Parent #1 - pathogenic g.2466660A>G g.2445430A>G - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - B0467 2-generation family, 2M, 2F - - France - - - - - 4 Hideki Itoh
+/. 1 c.332A>G r.(?) p.(Tyr111Cys) Parent #1 - pathogenic g.2466660A>G g.2445430A>G - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam673 2-generation family, 1M, 2F - - Germany - - - - - 3 Hideki Itoh
+/. 1 c.332A>G r.(?) p.(Tyr111Cys) Unknown - pathogenic g.2466660A>G g.2445430A>G A332G - KCNQ1_000654 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT1;RWS 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. - c.332A>G r.(?) p.(Tyr111Cys) Unknown - pathogenic g.2466660A>G g.2445430A>G KCNQ1(NM_000218.3):c.332A>G (p.Y111C) - KCNQ1_000654 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.332A>G r.(?) p.(Tyr111Cys) Parent #1 - pathogenic g.2466660A>G g.2445430A>G - - KCNQ1_000654 - MORL Deafness Variation Database, PubMed: Peroz 2009, PubMed: Winbo 2012, PubMed: Weingart 1977, PubMed: Winbo 2009, PubMed: Green 2013, PubMed: Dahimène 2006, PubMed: Winbo 2011, PubMed: Splawski 2000, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Peroz 2009, PubMed: Winbo 2012, PubMed: Weingart 1977, PubMed: Winbo 2009, PubMed: Green 2013, PubMed: Dahimène 2006, PubMed: Winbo 2011, PubMed: Splawski 2000, PubMed: Kapplinger 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.332A>G r.(?) p.(Tyr111Cys) Unknown - pathogenic g.2466660A>G - KCNQ1(NM_000218.3):c.332A>G (p.Y111C) - KCNQ1_000654 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - G10683 2-generation family, 3M, 2F - - France - - - - - 5 Hideki Itoh
+/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - B0702 2-generation family, 2M, 4F - - France - - - - - 6 Hideki Itoh
+/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam155 2-generation family, 1M, 1F - - Japan - - - - - 2 Hideki Itoh
+/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam176 2-generation family, 2M, 1F - - Japan - - - - - 3 Hideki Itoh
+/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam468 2-generation family, 1M, 1F - - Japan - - - - - 2 Hideki Itoh
+/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam562 2-generation family, 1M, 2F - - Japan - - - - - 3 Hideki Itoh
+/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam627 2-generation family, 1M, 1F - - Japan - - - - - 2 Hideki Itoh
+/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam838 2-generation family, 1M, 1F - - Japan - - - - - 2 Hideki Itoh
?/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - VUS g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam4 3-generation family, 1M, 4F - - Japan - - - - - 5 Hideki Itoh
+/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam29 2-generation family, 2M, 1F - - Japan - - - - - 3 Hideki Itoh
+/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam116 3-generation family, 2M, 3F - - Japan - - - - - 5 Hideki Itoh
+/. 7 c.1032G>A r.spl? p.(Ala344=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam163 2-generation family, 1M, 2F - - Japan - - - - - 3 Hideki Itoh
+/. 7 c.1032G>A r.spl p.(Ala344=) Unknown - pathogenic g.2604775G>A g.2583545G>A SP/A344/G-A - KCNQ1_000654 data from Inherited Arrhythmias web site PubMed: Choi 2004 - - Germline - - - - - DNA SEQ - - LQT1;RWS 15466642-? PubMed: Choi 2004 data from Inherited Arrhythmias web site - - United States - - - - - 1 Johan den Dunnen
+/. 7 c.1032G>A r.(=) p.(=) Unknown - pathogenic g.2604775G>A g.2583545G>A G1032A - KCNQ1_000654 data from Inherited Arrhythmias web site PubMed: Li 1998 - - Germline - - - - - DNA SEQ - - LQT1;RWS 9570196-? PubMed: Li 1998 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 7 c.1032G>A r.(=) p.(=) Unknown - pathogenic g.2604775G>A g.2583545G>A G1032A - KCNQ1_000654 data from Inherited Arrhythmias web site PubMed: Kanters 1998 - - Germline - - - - - DNA SEQ - - LQT1;RWS 9654228-? PubMed: Kanters 1998 data from Inherited Arrhythmias web site - - Denmark - - - - - 1 Johan den Dunnen
+/. 7 c.1032G>A r.(=) p.(=) Unknown - pathogenic g.2604775G>A g.2583545G>A G1032A - KCNQ1_000654 data from Inherited Arrhythmias web site PubMed: Itoh 1998 - - Germline - - - - - DNA SEQ - - LQT1;RWS 9799083-? PubMed: Itoh 1998 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 7 c.1032G>A r.(=) p.(=) Unknown - pathogenic g.2604775G>A g.2583545G>A G1032A - KCNQ1_000654 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT1;RWS 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 7 c.1032G>A r.(=) p.(=) Unknown - pathogenic g.2604775G>A g.2583545G>A G1032A - KCNQ1_000654 data from Inherited Arrhythmias web site PubMed: Murray 1999 - - Germline - - - - - DNA SEQ - - LQT1;RWS 10477533-? PubMed: Murray 1999 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 7 c.1032G>A r.spl p.(Ala344=) Unknown - pathogenic g.2604775G>A g.2583545G>A SP/A344/G-A - KCNQ1_000654 data from Inherited Arrhythmias web site PubMed: Choi 2004 - - Germline - - - - - DNA SEQ - - LQT1;RWS 15466642-? PubMed: Choi 2004 data from Inherited Arrhythmias web site - - United States - - - - - 1 Johan den Dunnen
+/. 7 c.1032G>A r.(=) p.(=) Unknown - pathogenic g.2604775G>A g.2583545G>A G1032A - KCNQ1_000654 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
+/. 7 c.1032G>A r.(=) p.(=) Unknown - pathogenic g.2604775G>A g.2583545G>A G1032A - KCNQ1_000654 data from Inherited Arrhythmias web site PubMed: Kyndt 1998 - - Germline - - - - - DNA SEQ - - LQT1;RWS -? PubMed: Kyndt 1998 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 7 c.1032G>A r.spl p.(Ala344=) Unknown - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - PubMed: Tester 2005 - - Germline - 6/541 cases LQT - - - DNA SEQ - - LQT 15840479-Pat PubMed: Tester 2005 541 LQT cases - - United States - - - - - 6 Johan den Dunnen
+/+ 7 c.1032G>A r.(=) p.(=) Parent #1 - pathogenic g.2604775G>A g.2583545G>A - - KCNQ1_000654 - MORL Deafness Variation Database, PubMed: Alders 1993, PubMed: Kanters 1998, PubMed: Itoh 1998, PubMed: Tsuji-Wakisaka 2011, PubMed: ACMG Board of Directors. 2015, PubMed: Priori 2013, PubMed: Green 2013, PubMed: Murray 1999 7, PubMed: Splawski 2000, PubMed: Gao 2012, PubMed: Li 1998 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Alders 1993, PubMed: Kanters 1998, PubMed: Itoh 1998, PubMed: Tsuji-Wakisaka 2011, PubMed: ACMG Board of Directors. 2015, PubMed: Priori 2013, PubMed: Green 2013, PubMed: Murray 1999 7, PubMed: Splawski 2000, PubMed: Gao 2012, PubMed: Li 1998 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.1032G>A r.(?) p.(Ala344=) Unknown - likely pathogenic g.2604775G>A - KCNQ1(NM_000218.2):c.1032G>A (p.(=)) - KCNQ1_000654 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1032G>A r.(?) p.(Ala344=) Unknown - pathogenic g.2604775G>A - KCNQ1(NM_000218.2):c.1032G>A (p.(=)) - KCNQ1_000654 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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