Transcript #00000443

Transcript name interleukin 2 receptor, gamma
Gene name IL2RG (interleukin 2 receptor, gamma)
Chromosome X
Transcript - NCBI ID NM_000206.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000197.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

22 entries on 1 page. Showing entries 1 - 22.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.49C>A VUS r.(?) p.(Pro17Thr)
-?/. - c.78A>T likely benign r.(?) p.(=)
?/. - c.115+161_115+162insTTCT - - p.(=)
?/. - c.115+161_115+162insTTCT - - p.(=)
?/. - c.115+174_115+175insTCTT - - p.(=)
?/. - c.115+174_115+175insTCTT - - p.(=)
-/. - c.325G>A benign r.(?) p.(Glu109Lys)
+/. - c.328del pathogenic r.(?) p.(Glu110Lysfs*37)
?/. - c.328G>T VUS r.(?) p.(Glu110*)
?/. - c.494T>G VUS r.(?) p.(Leu165Arg)
-?/. - c.567C>T likely benign r.(?) p.(=)
?/. - c.594+211dup - - p.(=)
?/. - c.657C>A VUS r.(?) p.(Tyr219*)
?/. - c.659C>T VUS r.(?) p.(Thr220Met)
+/. - c.817_818insATCAA pathogenic r.(?) p.(Ile273Asnfs*23)
?/. - c.853C>T VUS r.(?) p.(Arg285Trp)
-?/. - c.855-8C>T likely benign r.(=) p.(=)
?/. 8 c.1105A>G - r.(?) p.(Thr369Ala)
-?/. - c.*1348G>A likely benign r.(=) p.(=)
-?/. - c.*1369C>A likely benign r.(=) p.(=)
-?/. - c.*1709G>A likely benign r.(=) p.(=)
-?/. - c.*3743G>T likely benign r.(=) p.(=)
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