Transcript #00001121

Transcript name transcript variant 1
Gene name CNKSR2 (connector enhancer of kinase suppressor of Ras 2)
Chromosome X
Transcript - NCBI ID NM_014927.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055742.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

63 entries on 1 page. Showing entries 1 - 63.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 4 c.(453dup) pathogenic (recessive) r.(?) p.(Asp152Argfs*8)
-?/. - c.65-4G>A likely benign r.spl? p.?
+/. - c.298C>T - r.(?) p.(Gln100*)
-?/. - c.431+8C>T likely benign r.(=) p.(=)
+?/. - c.514C>T likely pathogenic r.(?) p.(Gln172*)
-/. - c.520-5T>C benign r.spl? p.?
-?/. - c.533A>T likely benign r.(?) p.(Tyr178Phe)
-?/. - c.561+15A>G likely benign r.(=) p.(=)
-/. - c.562-5T>C benign r.spl? p.?
?/. 6 c.592A>G - r.(?) p.(Ile198Val)
-?/. 6 c.651A>G - r.(?) p.(=)
-?/. - c.673G>A likely benign r.(?) p.(Glu225Lys)
-?/. - c.741+180del likely benign r.(=) p.(=)
?/. - c.811-93del - - p.(=)
-/. - c.811-92T>C benign r.(=) p.(=)
-/. - c.811-83del benign r.(=) p.(=)
-/. - c.1092-5T>C benign r.spl? p.?
-?/. - c.1140G>A likely benign r.(?) p.(=)
-?/. - c.1297A>G likely benign r.(?) p.(Thr433Ala)
-?/. - c.1345G>C likely benign r.(?) p.(Val449Leu)
+?/. - c.1480A>T likely pathogenic r.(?) p.(Lys494*)
-?/. - c.1550T>C likely benign r.(?) p.(Met517Thr)
-/. - c.1657+20C>T benign r.(=) p.(=)
-?/. - c.1677C>T likely benign r.(?) p.(=)
-/. - c.1904+46del benign r.(=) p.(=)
-?/. - c.1905-9C>A likely benign r.(=) p.(=)
+?/. - c.2134C>T likely pathogenic r.(?) p.(Arg712*)
?/. - c.2296C>T VUS r.(?) p.(Arg766Cys)
-?/. - c.2398A>G likely benign r.(?) p.(Ile800Val)
-?/. - c.2411A>G likely benign r.(?) p.(His804Arg)
-?/. - c.2411A>G likely benign r.(?) p.(His804Arg)
?/. - c.2411A>G VUS r.(?) p.(His804Arg)
-?/. - c.2449C>T likely benign r.(?) p.(=)
+?/. - c.2545C>T likely pathogenic r.(?) p.(Arg849*)
-?/. - c.2553C>T likely benign r.(?) p.(=)
?/. - c.2561A>C VUS r.(?) p.(Asn854Thr)
-?/. - c.2593T>G likely benign r.(?) p.(Cys865Gly)
?/. 20 c.2598C>G - r.(?) p.(Asp866Glu)
-/. - c.2610C>T benign r.(?) p.(=)
-/. - c.2693-7461G>A benign r.(=) p.(=)
-?/. - c.2693-7G>T likely benign r.(=) p.(=)
-/. - c.2983G>A benign r.(?) p.(Asp995Asn)
?/. - c.3065C>T VUS r.(?) p.(Ser1022Phe)
-?/. - c.*3380C>T likely benign r.(=) p.(=)
-?/. - c.*3645G>C likely benign r.(=) p.(=)
?/. - c.*3666T>C VUS r.(=) p.(=)
-?/. - c.*3755C>A likely benign r.(=) p.(=)
-?/. - c.*3898C>T likely benign r.(=) p.(=)
-?/. - c.*3898C>T likely benign r.(=) p.(=)
?/. - c.*4138G>A VUS r.(=) p.(=)
-?/. - c.*4258A>C likely benign r.(=) p.(=)
-?/. - c.*4315T>G likely benign r.(=) p.(=)
-/. - c.*4360C>T benign r.(=) p.(=)
-?/. - c.*4439T>C likely benign r.(=) p.(=)
?/. - c.*4471G>A VUS r.(=) p.(=)
-?/. - c.*4579G>A likely benign r.(=) p.(=)
-?/. - c.*4718C>G likely benign r.(=) p.(=)
?/. - c.*4777C>T VUS r.(=) p.(=)
-?/. - c.*4795A>G likely benign r.(=) p.(=)
-?/. - c.*4888G>C likely benign r.(=) p.(=)
?/. - c.*5032C>T VUS r.(=) p.(=)
?/. - c.*5210G>T VUS r.(=) p.(=)
?/. - c.*5237G>A VUS r.(=) p.(=)
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