Transcript #00010380

Transcript name transcript variant 1
Gene name KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11)
Chromosome 11
Transcript - NCBI ID NM_000525.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000516.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

138 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-6235C>T likely benign r.(?) p.(=)
-?/. - c.-6178C>A likely benign r.(?) p.(=)
?/. - c.-6176C>T VUS r.(?) p.(=)
-?/. - c.-5651G>T likely benign r.(?) p.(=)
-/. - c.-5552G>C benign r.(?) p.(=)
-/. - c.-5077A>G benign r.(?) p.(=)
-?/. - c.-5052T>A likely benign r.(?) p.(=)
?/. - c.-5049T>A VUS r.(?) p.(=)
?/. - c.-5036A>G VUS r.(?) p.(=)
?/. - c.-5033G>A VUS r.(?) p.(=)
?/. - c.-5022A>T VUS r.(?) p.(=)
?/. - c.-4990G>A VUS r.(?) p.(=)
?/. - c.-4989C>G VUS r.(?) p.(=)
?/. - c.-4943G>A VUS r.(?) p.(=)
-?/. - c.-4942G>A likely benign r.(?) p.(=)
-?/. - c.-4927C>T likely benign r.(?) p.(=)
-/. - c.-4918C>T benign r.(?) p.(=)
?/. - c.-4917G>A VUS r.(?) p.(=)
+/. 1 c.10C>T pathogenic r.(?) p.(Arg4Cys)
?/. 1 c.11G>A VUS r.(?) p.(Arg4His)
-?/. - c.27C>T likely benign r.(?) p.(=)
+/. 1 c.50T>C pathogenic r.(?) p.(Leu17Pro)
-/. - c.67A>G benign r.(?) p.(Lys23Glu)
+/. 1 c.78C>A pathogenic r.(?) p.(Tyr26*)
+/. 1 c.79C>T pathogenic r.(?) p.(Arg27Cys)
?/. - c.85C>G VUS r.(?) p.(Arg29Gly)
?/. - c.92G>T VUS r.(?) p.(Arg31Leu)
-?/. - c.108G>A likely benign r.(?) p.(=)
+/. 1 c.112A>G pathogenic r.(?) p.(Lys38Glu)
+/. 1 c.119G>C pathogenic r.(?) p.(Gly40Ala)
?/. 1 c.125G>A VUS r.(?) p.(Cys42Tyr)
?/. 1 c.130G>A VUS r.(?) p.(Val44Met)
?/. 1 c.133G>T VUS r.(?) p.(Ala45Ser)
+/. 1 c.145A>T pathogenic r.(?) p.(Ile49Phe)
?/. - c.148C>T VUS r.(?) p.(Arg50Trp)
?/. 1 c.148C>T VUS r.(?) p.(Arg50Trp)
+/. 1 c.152A>G pathogenic r.(?) p.(Glu51Gly)
?/. 1 c.155A>C VUS r.(?) p.(Gln52Pro)
+/. 1 c.160C>T pathogenic r.(?) p.(Arg54Cys)
+/. 1 c.166_167delinsGG pathogenic r.(?) p.(Leu56Gly)
?/. 1 c.173A>T VUS r.(?) p.(Asp58Val)
?/. 1 c.179T>C VUS r.(?) p.(Phe60Ser)
+/. 1 c.185del pathogenic r.(?) p.(Thr62Serfs*68)
+/. 1 c.240del pathogenic r.(?) p.(Cys81Alafs*49)
?/. 1 c.251T>G VUS r.(?) p.(Leu84Arg)
?/. - c.264G>T VUS r.(?) p.(Met88Ile)
?/. - c.287C>T VUS r.(?) p.(Ala96Val)
?/. 1 c.287C>T VUS r.(?) p.(Ala96Val)
?/. 1 c.289C>T VUS r.(?) p.(His97Tyr)
?/. - c.290A>G VUS r.(?) p.(His97Arg)
+/. 1 c.295G>T pathogenic r.(?) p.(Asp99Tyr)
?/. - c.309C>T VUS r.(?) p.(=)
?/. 1 c.341T>C VUS r.(?) p.(Ile114Thr)
?/. 1 c.344A>T VUS r.(?) p.(His115Leu)
?/. 1 c.353C>T VUS r.(?) p.(Ser118Leu)
+/. 1 c.356dup pathogenic r.(?) p.(Ala120Cysfs*7)
?/. 1 c.362T>C VUS r.(?) p.(Phe121Ser)
?/. 1 c.385G>A VUS r.(?) p.(Val129Met)
+/. 1 c.390_393dup pathogenic r.(?) p.(Gly132Tyrfs*10)
?/. 1 c.391A>G VUS r.(?) p.(Ile131Val)
?/. 1 c.391_393dup VUS r.(?) p.(Ile131dup)
?/. 1 c.415A>C VUS r.(?) p.(Thr139Pro)
?/. 1 c.418G>A VUS r.(?) p.(Glu140Lys)
?/. 1 c.425G>A VUS r.(?) p.(Cys142Tyr)
?/. 1 c.463G>A VUS r.(?) p.(Val155Met)
?/. 1 c.463G>T VUS r.(?) p.(Val155Leu)
?/. 1 c.469C>G VUS r.(?) p.(Leu157Val)
?/. 1 c.480C>G VUS r.(?) p.(Asn160Lys)
?/. 1 c.490C>T VUS r.(?) p.(Leu164Phe)
+/. 1 c.498C>G pathogenic r.(?) p.(Cys166Trp)
?/. 1 c.499A>G VUS r.(?) p.(Ile167Val)
+/. 1 c.506T>C pathogenic r.(?) p.(Met169Thr)
?/. 1 c.512C>A VUS r.(?) p.(Thr171Asn)
?/. - c.527G>A VUS r.(?) p.(Arg176His)
+/. 1 c.532del pathogenic r.(?) p.(Ala178Leufs*11)
+/. 1 c.535G>A pathogenic r.(?) p.(Glu179Lys)
?/. 1 c.539C>T VUS r.(?) p.(Thr180Ile)
-?/. - c.567C>A likely benign r.(?) p.(=)
-?/. - c.584G>A likely benign r.(?) p.(Arg195His)
+/. 1 c.601C>T pathogenic r.(?) p.(Arg201Cys)
?/. - c.612C>A VUS r.(?) p.(Asp204Glu)
+/. 1 c.617G>A pathogenic r.(?) p.(Arg206His)
?/. 1 c.623G>A VUS r.(?) p.(Ser208Asn)
+/. 1 c.623G>C pathogenic r.(?) p.(Ser208Thr)
?/. 1 c.636C>T VUS r.(?) p.(Ser212=)
?/. 1 c.664A>C VUS r.(?) p.(Lys222Gln)
?/. - c.730G>A VUS r.(?) p.(Val244Met)
+/. 1 c.774C>A pathogenic r.(?) p.(Tyr258*)
+/. 1 c.775del pathogenic r.(?) p.(His259Metfs*61)
?/. 1 c.778G>C VUS r.(?) p.(Val260Leu)
?/. 1 c.794G>T VUS r.(?) p.(Ser265Ile)
-?/. - c.801C>G likely benign r.(?) p.(=)
-?/. - c.801C>G likely benign r.(?) p.(=)
-/. - c.801C>G benign r.(?) p.(=)
?/. 1 c.802T>C VUS r.(?) p.(Tyr268His)
?/. - c.804C>T VUS r.(?) p.(=)
-/. - c.808C>G benign r.(?) p.(Leu270Val)
-?/. - c.808C>G likely benign r.(?) p.(Leu270Val)
-/. - c.808C>G benign r.(?) p.(Leu270Val)
-?/. - c.819C>T likely benign r.(?) p.(=)
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