Transcript #00009914

Transcript name transcript variant 3
Gene name IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma)
Chromosome X
Transcript - NCBI ID NM_003639.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003630.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

93 entries on 1 page. Showing entries 1 - 93.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-210479_*929753dup - - -
./. - c.-205912_*68432dup - - -
-?/. - c.-2122G>A likely benign - -
-/. - c.-2076T>G benign - -
-?/. - c.-2076T>G likely benign - -
?/. - c.-2069C>T VUS - -
-?/. - c.-1323C>G likely benign - -
-?/. - c.-1322G>A likely benign - -
-/. - c.-1305C>A benign - -
-?/. - c.-1305C>A likely benign - -
-?/. - c.-1282G>A likely benign - -
-?/. - c.-1254G>A likely benign - -
-?/. - c.-1254G>A likely benign - -
-?/. - c.14T>G likely benign - -
-?/. - c.84C>A likely benign - -
?/? 2 c.117_127dup - r.(?) p.(Ser43Cysfs*76)
?/? 2 c.133C>T - r.(?) p.(Gln45*)
-?/. - c.151C>T likely benign - -
?/? 2 c.151del - r.(?) p.(Leu51Serfs*64)
?/? 2 c.169G>A - r.(?) p.(Glu57Lys)
?/? 2 c.184C>T - r.(?) p.(Arg62*)
?/? 3 c.214del - r.(?) p.(Leu72Cysfs*43)
?/? 3 c.220del - r.(?) p.(Glu74Serfs*41)
?/? 3 c.229del - r.(?) p.(Glu77Argfs*38)
?/? 3 c.256C>T - r.(?) p.(Gln86*)
?/? 3 c.262del - r.(?) p.(Glu88Argfs*27)
?/? 3 c.266_268del - r.(?) p.(Lys90del)
?/? 3 c.292C>T - r.(?) p.(Gln98*)
?/. - c.337G>A VUS - -
?/? 3 c.337G>A - r.(?) p.(Asp113Asn)
?/? 3 c.358C>T - r.(?) p.(Gln120*)
?/? 3 c.367C>T - r.(?) p.(Arg123Trp)
?/? 3 c.382dup - r.(?) p.(Leu128Profs*10)
?/? 3i c.399+1G>C - r.(?) p.(?)
-?/. - c.399+19G>C likely benign - -
?/? 3i_10 c.400-?_*585+?del - r.? p.?
?/? 4 c.433C>T - r.(?) p.(Gln145*)
?/? 4 c.436_471delinsT - r.(?) p.(Val146*)
?/? 4 c.454del - r.(?) p.(Glu152Serfs*129)
?/? 4 c.484del - r.(?) p.(Ala162Leufs*119)
?/? 4 c.502C>T - r.(?) p.(Gln168*)
?/? 4 c.509T>C - r.(?) p.(Leu170Pro)
?/? 4 c.511G>T - r.(?) p.(Glu171*)
?/? 4 c.515_516insC - r.(?) p.(Arg173Serfs*15)
?/? 4 c.516del - r.(?) p.(Arg173Glyfs*108)
?/? 4 c.518G>A - r.(?) p.(Arg173Gln)
?/? 4i c.518+2T>A - r.(?) p.(?)
?/? 4i c.518+2T>G - r.(?) p.(?)
?/? 4i c.519-3_519dup - r.(?) p.(?)
?/? 5 c.523dup - r.(?) p.(Arg175Profs*13)
?/? 5 c.551_588del - r.(?) p.(Leu184Argfs*57)
?/? 5 c.570del - r.(?) p.(Leu191Cysfs*90)
?/? 5 c.570_574del - r.(?) p.(Leu191Alafs*61)
?/? 5 c.638_642dup - r.(?) p.(Met215Serfs*68)
?/? 5 c.639_645del - r.(?) p.(Arg214Serfs*65)
?/? 5 c.653_659dup - r.(?) p.(Ser221Glyfs*35)
?/? 5 c.662C>A - r.(?) p.(Ser221*)
?/? 6 c.685C>T - r.(?) p.(Gln229*)
?/? 6 c.706C>T - r.(?) p.(Gln236*)
?/? 6 c.715C>T - r.(?) p.(Gln239*)
?/? 6 c.723C>G - r.(?) p.(Tyr241*)
?/? 6 c.766C>T - r.(?) p.(Arg256*)
?/? 7 c.792dup - r.(?) p.(Gln265Thrfs*19)
?/? 7 c.868C>T - r.(?) p.(Gln290*)
?/? 7 c.896del - r.(?) p.(Pro299Argfs*3)
?/? 8 c.940G>C - r.(?) p.(Ala314Pro)
?/? 8 c.943dup - r.(?) p.(Glu315Glyfs*80)
?/? 8 c.965T>C - r.(?) p.(Leu322Pro)
?/? 8 c.967G>C - r.(?) p.(Ala323Pro)
-/. - c.1056-6T>C benign - -
?/. - c.1075C>T VUS - -
?/? 9 c.1078del - r.(?) p.(His360Metfs*91)
?/? 9 c.1110del - r.(?) p.(Ala371Profs*80)
?/? 9 c.1110dup - r.(?) p.(Ala371Argfs*24)
?/? 9 c.1115dup - r.(?) p.(Ala373Cysfs*22)
?/? 9 c.1116del - r.(?) p.(Ala373Profs*78)
-?/. - c.1117+11G>A likely benign - -
?/? 10 c.1127_1131del - r.(?) p.(Ser377Profs*16)
?/? 10 c.1135dup - r.(?) p.(Leu379Profs*16)
?/? 10 c.1136_1137del - r.(?) p.(Leu379Argfs*15)
?/? 10 c.1150C>T - r.(?) p.(Gln384*)
?/? 10 c.1163_1175del - r.(?) p.(Pro388His*59)
?/? 10 c.1166_1178dup - r.(?) p.(Asp394Argfs*5)
?/? 10 c.1167del - r.(?) p.(Glu390Argfs*61)
?/? 10 c.1167dup - r.(?) p.(Glu390Argfs*5)
?/? 10 c.1183_1184del - r.(?) p.(Phe395Leufs*11)
?/. - c.1219A>G VUS - -
+?/. - c.1219A>G likely pathogenic - -
+?/. - c.1219A>G likely pathogenic - -
?/? 10 c.1237C>T - r.(?) p.(His413Tyr)
?/? 10 c.1244dup - r.(?) p.(Met415Ilefs*5)
?/? 10 c.1258T>C - r.(?) p.(*420Glnext*27)
+/? 10 c.1259A>G - r.(?) p.(*420Trpext*27)
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