Transcript #00010411

Transcript name transcript variant 1
Gene name KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1)
Chromosome 11
Transcript - NCBI ID NM_000218.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000209.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1067 entries on 11 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. _1_1i c.-97652_386+22686del - r.0? p.0?
-/. 1 c.-5T>C - r.(=) p.(=)
-/. - c.-5T>C benign r.(=) p.(=)
-?/. - c.-5T>C likely benign r.(=) p.(=)
+?/. 11i c.1514+37100_1514+37140|bsrC - r.(=) p.(=)
+?/. 11i c.1514+37100|bsrC - r.(=) p.(=)
+?/. 11i c.1514+37107|bsrC - r.(=) p.(=)
+?/. 11i c.1514+37119|bsrC - r.(=) p.(=)
+?/. 11i c.1514+37121|bsrC - r.(=) p.(=)
+?/. 11i c.1514+37133|bsrC - r.(=) p.(=)
+?/. 11i c.1514+37140|bsrC - r.(=) p.(=)
+/. 5 c.726C>R - r.(?) p.(Asp242Glu)
+/. 2 c.? - r.? p.?
+/. 1 c.5C>T - r.(?) p.(Ala2Val)
+/. 1 c.19C>T - r.(?) p.(Pro7Ser)
+/. - c.108insT - r.(?) p.(?)
?/. - c.113T>C VUS r.(?) p.(Leu38Pro)
-/. - c.118C>T benign r.(=) p.(=)
?/. - c.136G>A VUS r.(?) p.(Ala46Thr)
+/. 1 c.136G>A - r.(?) p.(Ala46Thr)
?/. - c.151_152insCGCGCCCAT VUS r.(?) p.(Leu50_Tyr51insSerArgPro)
+/. 1 c.151_152insT - r.(?) p.(Tyr51Leufs*234)
+/. 1 c.153C>G - r.(?) p.(Tyr51*)
-/. 1 c.160_168dup - r.(?) p.(Ile54_Pro56dup)
-/. 1 c.160_168dup - r.(?) p.(Ile54_Pro56dup)
-/- 1 c.160_168dup - r.(?) p.(Ile54_Pro56dup)
?/. - c.160_168dup VUS r.(?) p.(Ile54_Pro56dup)
+/. 1 c.176delC - r.(?) p.(Pro59Glnfs*27)
+/. 1 c.190_210del - r.(?) p.(Pro64_Pro70del)
-?/. - c.194C>T likely benign r.(?) p.(Ala65Val)
+/. 1 c.197C>T - r.(?) p.(Ser66Phe)
+/. 1 c.200_210del - r.(?) p.(Pro67Argfs*214)
-/. - c.207G>T benign r.(=) p.(=)
+/. 1 c.211_219del - r.(?) p.(Ala71_Pro73del)
+/. 1 c.211_219del - r.(?) p.(Ala71_Pro73del)
+/. 1 c.211_219del - r.(?) p.(Ala71_Pro73del)
?/. - c.217C>A VUS r.(?) p.(Pro73Thr)
?/. - c.217C>A VUS r.(?) p.(Pro73Thr)
+/. 1 c.217C>A - r.(?) p.(Pro73Thr)
?/. 1 c.217C>A - r.(?) p.(Pro73Thr)
+/. 1 c.220_221delCC - r.(?) p.(Pro74Serfs*210)
+/. 1 c.242_264delinsGCGCCCGCGG - r.(?) p.(Pro81Argfs*152)
+/. 1 c.273_299delinsTG - r.(?) p.(Ser92Glyfs*137)
+/. 1 c.287del - r.(?) p.(Thr96Serfs*141)
+/. 1 c.298delG - r.(?) p.(Val100Cysfs*137)
-/. 1 c.328A>G - r.(?) p.(?)
+/. - c.328G>A - r.(?) p.(Val110Ile)
+/. - c.328G>A - r.(?) p.(Val110Ile)
-/- 1 c.328G>A - r.(?) p.(Val110Ile)
+/. - c.332A>G pathogenic r.(?) p.(Tyr111Cys)
+/. 1 c.332A>G - r.(?) p.(Tyr111Cys)
+/. 1 c.332A>G - r.(?) p.(Tyr111Cys)
+/. 1 c.332A>G - r.(?) p.(Tyr111Cys)
+/. 1 c.332A>G - r.(?) p.(Tyr111Cys)
?/. 1 c.334_336dup - r.(?) p.(Asn112dup)
+/. 1 c.341T>C - r.(?) p.(Leu114Pro)
+/. 1 c.344A>G - r.(?) p.(Glu115Gly)
-/. - c.345G>A benign r.(=) p.(=)
+/. 1 c.350C>T - r.(?) p.(Pro117Leu)
+/. 1 c.350C>T - r.(?) p.(Pro117Leu)
?/. 1 c.355G>C - r.(?) p.(Gly119Arg)
-/. 1 c.356G>A - r.(?) p.(Gly119Asp)
+/. 1 c.365G>A - r.(?) p.(Cys122Tyr)
+/. - c.365insT - r.(?) p.(?)
?/. 1 c.376C>G - r.(?) p.(His126Asp)
+/. 1 c.381C>A - r.(?) p.(Phe127Leu)
-/. 1 c.385G>A - r.(?) p.(Val129Ile)
-/- 1 c.385G>A - r.(?) p.(Val129Ile)
+/. 1i c.386+1G>A - r.spl? p.(?)
?/. 1i c.386+5G>A - r.spl? p.?
+/. - c.387-5T>A ACMG 5 r.spl? p.?
-/. 2i c.387+217C>T - r.(?) p.(?)
+/. 2 c.397G>A - r.(?) p.(Val133Ile)
+/. 2 c.401T>C - r.(?) p.(Leu134Pro)
+/. 2 c.403delG - r.(?) p.(Val135Serfs*102)
+/. 2 c.407G>T - r.(?) p.(Cys136Phe)
+/. 2 c.409C>T - r.(?) p.(Leu137Phe)
+/. 2 c.418A>G - r.(?) p.(Ser140Gly)
+/. 2 c.430A>G - r.(?) p.(Thr144Ala)
-/. 2 c.435C>T - r.(=) p.(=)
-/. 2 c.435C>T - r.(=) p.(=)
-/. - c.435C>T benign r.(=) p.(=)
+/. 2 c.436G>A - r.(?) p.(Glu146Lys)
+/. 2 c.444T>A - r.(?) p.(Tyr148*)
+/. 2 c.444T>A - r.(?) p.(Tyr148*)
+/. 2 c.451_452delCT - r.(?) p.(Leu151Glyfs*133)
?/. - c.458C>T - r.(?) p.(Thr153Met)
+/. 2 c.458C>T - r.(?) p.(Thr153Met)
-?/. - c.459G>A likely benign r.(=) p.(=)
-/. - c.459G>A benign r.(=) p.(=)
-/. - c.459G>A benign r.(=) p.(=)
-/. 2 c.459G>T - r.(?) p.(=)
+/. 2 c.470T>G - r.(?) p.(Phe157Cys)
+/. - c.477+1G>A pathogenic r.spl? p.?
?/. 2i c.477+1G>A - r.spl? p.?
+/. 2i c.477+1G>A - r.spl? p.(?)
+/. 2i c.477+1G>A - r.spl? p.(?)
+/. 2i c.477+1G>A - r.spl? p.(?)
+/. 2i c.477+1G>A - r.spl p.?
+/. 2i c.477+1G>A - r.spl p.?
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