Transcript #00025228

Transcript name transcript variant 2
Gene name GNAS (GNAS complex locus)
Chromosome 20
Transcript - NCBI ID NM_001077490.1
Transcript - Ensembl ID ENST00000371100.4
Protein - NCBI ID NP_001070958.1
Protein - Ensembl ID ENSP00000360141
Protein - Uniprot ID -
Remarks GNAS-XL / XLas


Variants

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
-?/. - c.-13290C>T likely benign r.(?) p.(=) - - -
?/. - c.-13279C>T VUS r.(?) p.(=) - - -
-/. - c.-13053C>T benign r.(?) p.(=) - - -
-?/. - c.-12960_-12937del likely benign r.(?) p.(=) - - -
-?/. - c.-12949C>T likely benign r.(?) p.(=) - - -
-?/. - c.-12935G>A likely benign r.(?) p.(=) - - -
?/. - c.-12808C>T VUS r.(?) p.(=) - - -
-?/. - c.-12786C>A likely benign r.(?) p.(=) - - -
-?/. - c.-12755G>A likely benign r.(?) p.(=) - - -
?/. - c.-12710_-12708del VUS r.(?) p.(=) - - -
-?/. - c.-12708G>A likely benign r.(?) p.(=) - - -
-/. - c.-12696T>A benign r.(?) p.(=) - - -
-?/. - c.-12632C>A likely benign r.(?) p.(=) - - -
-?/. - c.-177G>A likely benign r.(?) p.(=) - - -
?/. - c.-115C>G VUS r.(?) p.(=) - - -
-?/. - c.-109G>A likely benign r.(?) p.(=) - - -
?/. - c.-34G>A VUS r.(?) p.(=) - - -
-?/. - c.-30C>G likely benign r.(?) p.(=) - - -
?/. - c.273T>C VUS r.(?) p.(=) - - -
?/? _1 c.288G>A - r.(=) p.(=) - 0.000 -
-?/. - c.297A>G likely benign r.(?) p.(=) - - -
-?/. - c.297A>G likely benign r.(?) p.(=) - - -
-?/. - c.297A>G likely benign r.(?) p.(=) - - -
-?/. - c.297A>G likely benign r.(?) p.(=) - - -
-?/. - c.313A>G likely benign r.(?) p.(Thr105Ala) - - -
-/. - c.313A>G benign r.(?) p.(Thr105Ala) - - -
-?/. - c.338T>C likely benign r.(?) p.(Val113Ala) - - -
?/. - c.351C>T VUS r.(?) p.(=) - - -
?/. - c.391G>A VUS r.(?) p.(Gly131Arg) - - -
-/. - c.440G>A benign r.(?) p.(Arg147Lys) - - -
-?/. - c.440G>A likely benign r.(?) p.(Arg147Lys) - - -
-?/. - c.441G>C likely benign r.(?) p.(Arg147Ser) - - -
-?/. - c.441G>C likely benign r.(?) p.(Arg147Ser) - - -
?/. - c.491T>G VUS r.(?) p.(Leu164Trp) - - -
?/. - c.533G>A VUS r.(?) p.(Arg178Gln) - - -
-?/. - c.585G>A likely benign r.(?) p.(=) - - -
-?/. - c.587C>T likely benign r.(?) p.(Ser196Leu) - - -
?/. - c.634C>T VUS r.(?) p.(Pro212Ser) - - -
-?/. - c.701G>A likely benign r.(?) p.(Arg234Gln) - - -
-?/. - c.710C>A likely benign r.(?) p.(Ala237Asp) - - -
-?/. - c.752C>G likely benign r.(?) p.(Ala251Gly) - - -
-?/. - c.758C>T likely benign r.(?) p.(Pro253Leu) - - -
-?/. - c.803C>T likely benign r.(?) p.(Ser268Leu) - - -
-?/. - c.814G>A likely benign r.(?) p.(Ala272Thr) - - -
?/. - c.838C>A VUS r.(?) p.(Pro280Thr) - - -
?/. - c.917G>A VUS r.(?) p.(Arg306Gln) - - -
-/. - c.940C>T benign r.(?) p.(Arg314Trp) - - -
-?/. - c.940C>T likely benign r.(?) p.(Arg314Trp) - - -
-/. - c.940C>T benign r.(?) p.(Arg314Trp) - - -
-?/. - c.942G>C likely benign r.(?) p.(=) - - -
-?/. - c.980T>A likely benign r.(?) p.(Ile327Lys) - - -
-?/. - c.993_994insGCAGCCCCT likely benign r.(?) p.(Gly331_Gln332insAlaAlaPro) - - -
-?/. - c.1001_1009dup likely benign r.(?) p.(Leu334_Pro336dup) - - -
-/. - c.1001_1009dup benign r.(?) p.(Leu334_Pro336dup) - - -
-/. - c.1001_1009dup benign r.(?) p.(Leu334_Pro336dup) - - -
-?/. - c.1014G>A likely benign r.(?) p.(=) - - -
-?/. - c.1034C>G likely benign r.(?) p.(Pro345Arg) - - -
?/. - c.1034C>G VUS r.(?) p.(Pro345Arg) - - -
?/. - c.1034C>G VUS r.(?) p.(Pro345Arg) - - -
-/. - c.1046_1072del benign r.(?) p.(Pro349_Ile357del) - - -
?/. - c.1046_1072del VUS r.(?) p.(Pro349_Ile357del) - - -
?/. - c.1093C>A VUS r.(?) p.(Pro365Thr) - - -
-?/. - c.1112A>G likely benign r.(?) p.(Gln371Arg) - - -
-?/. - c.1120C>A likely benign r.(?) p.(Pro374Thr) - - -
-?/. - c.1120C>A likely benign r.(?) p.(Pro374Thr) - - -
-?/. - c.1142C>T likely benign r.(?) p.(Pro381Leu) - - -
?/. - c.1143G>A VUS r.(?) p.(=) - - -
-?/. - c.1148G>A likely benign r.(?) p.(Arg383Gln) - - -
-?/. - c.1156A>C likely benign r.(?) p.(Thr386Pro) - - -
?/. - c.1179G>A VUS r.(?) p.(=) - - -
-/. - c.1189C>G benign r.(?) p.(Leu397Val) - - -
-?/. - c.1190_1191insTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG likely benign r.(?) p.(Leu397_Thr398insAspAlaProAlaAspProAspSerGlyAlaAlaArg) - - -
-?/. - c.1207_1208insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC likely benign r.(?) p.(Ile402_Gln403insProThrProGlyArgProValThrProGlnProIle) - - -
-?/. - c.1207_1208insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC likely benign r.(?) p.(Ile402_Gln403insProThrProGlyArgProValThrProGlnProIle) - - -
?/. - c.1208A>C VUS r.(?) p.(Gln403Pro) - - -
?/. - c.1211T>C VUS r.(?) p.(Met404Thr) - - -
?/. - c.1212G>T VUS r.(?) p.(Met404Ile) - - -
-?/. - c.1241C>G likely benign r.(?) p.(Pro414Arg) - - -
-?/. - c.1241C>G likely benign r.(?) p.(Pro414Arg) - - -
?/. - c.1258C>T VUS r.(?) p.(Pro420Ser) - - -
-/. - c.1268C>A benign r.(?) p.(Pro423His) - - -
?/. - c.1268C>A VUS r.(?) p.(Pro423His) - - -
-?/. - c.1275G>A likely benign r.(?) p.(=) - - -
-?/. - c.1331G>A likely benign r.(?) p.(Gly444Glu) - - -
-/. - c.1337C>T benign r.(?) p.(Pro446Leu) - - -
-?/. - c.1337C>T likely benign r.(?) p.(Pro446Leu) - - -
?/. - c.1361A>T VUS r.(?) p.(Gln454Leu) - - -
?/. - c.1366C>T VUS r.(?) p.(=) - - -
-?/. - c.1384G>A likely benign r.(?) p.(Ala462Thr) - - -
-?/. - c.1403C>T likely benign r.(?) p.(Pro468Leu) - - -
?/. - c.1461G>A VUS r.(?) p.(=) - - -
?/. - c.1493C>A VUS r.(?) p.(Ala498Asp) - - -
-/. - c.1611C>G benign r.(?) p.(=) - - -
-/. - c.1611C>G benign r.(?) p.(=) - - -
-?/. - c.1611C>G likely benign r.(?) p.(=) - - -
-?/. - c.1658C>T likely benign r.(?) p.(Pro553Leu) - - -
?/. - c.1736G>C VUS r.(?) p.(Trp579Ser) - - -
-?/. - c.1736G>C likely benign r.(?) p.(Trp579Ser) - - -
-?/. - c.1752C>G likely benign r.(?) p.(Asp584Glu) - - -
?/. - c.1815C>T VUS r.(?) p.(=) - - -
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