Transcript #00025229

Transcript name transcript variant 2
Gene name GNAS (GNAS complex locus)
Chromosome 20
Transcript - NCBI ID NM_080425.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_536350.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

156 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.-13103C>T likely benign r.(?) p.(=) - - -
?/. - c.-13092C>T VUS r.(?) p.(=) - - -
-/. - c.-12866C>T benign r.(?) p.(=) - - -
-?/. - c.-12773_-12750del likely benign r.(?) p.(=) - - -
-?/. - c.-12762C>T likely benign r.(?) p.(=) - - -
-?/. - c.-12748G>A likely benign r.(?) p.(=) - - -
?/. - c.-12621C>T VUS r.(?) p.(=) - - -
-?/. - c.-12599C>A likely benign r.(?) p.(=) - - -
-?/. - c.-12568G>A likely benign r.(?) p.(=) - - -
?/. - c.-12523_-12521del VUS r.(?) p.(=) - - -
-?/. - c.-12521G>A likely benign r.(?) p.(=) - - -
-/. - c.-12509T>A benign r.(?) p.(=) - - -
-?/. - c.-12445C>A likely benign r.(?) p.(=) - - -
-?/. - c.11G>A likely benign r.(?) p.(Arg4His) - - -
?/. - c.73C>G VUS r.(?) p.(Gln25Glu) - - -
-?/. - c.79G>A likely benign r.(?) p.(Glu27Lys) - - -
?/. - c.154G>A VUS r.(?) p.(Glu52Lys) - - -
-?/. - c.158C>G likely benign r.(?) p.(Pro53Arg) - - -
?/. - c.460T>C VUS r.(?) p.(Tyr154His) - - -
?/? 1 c.475G>A - r.(?) p.(Glu159Lys) probably damaging 0.975 deleterious (0)
-?/. - c.484A>G likely benign r.(?) p.(Met162Val) - - -
-?/. - c.484A>G likely benign r.(?) p.(Met162Val) - - -
-?/. - c.484A>G likely benign r.(?) p.(Met162Val) - - -
-?/. - c.484A>G likely benign r.(?) p.(Met162Val) - - -
-?/. - c.500A>G likely benign r.(?) p.(Asp167Gly) - - -
-/. - c.500A>G benign r.(?) p.(Asp167Gly) - - -
-?/. - c.525T>C likely benign r.(?) p.(=) - - -
?/. - c.538C>T VUS r.(?) p.(Gln180*) - - -
?/. - c.578G>A VUS r.(?) p.(Gly193Glu) - - -
-/. - c.627G>A benign r.(?) p.(=) - - -
-?/. - c.627G>A likely benign r.(?) p.(=) - - -
-?/. - c.628G>C likely benign r.(?) p.(Ala210Pro) - - -
-?/. - c.628G>C likely benign r.(?) p.(Ala210Pro) - - -
?/. - c.678T>G VUS r.(?) p.(Phe226Leu) - - -
?/. - c.720G>A VUS r.(?) p.(=) - - -
-?/. - c.772G>A likely benign r.(?) p.(Val258Ile) - - -
-?/. - c.774C>T likely benign r.(?) p.(=) - - -
?/. - c.821C>T VUS r.(?) p.(Pro274Leu) - - -
-?/. - c.888G>A likely benign r.(?) p.(=) - - -
-?/. - c.897C>A likely benign r.(?) p.(Ser299Arg) - - -
-?/. - c.939C>G likely benign r.(?) p.(Ser313Arg) - - -
-?/. - c.945C>T likely benign r.(?) p.(=) - - -
-?/. - c.990C>T likely benign r.(?) p.(=) - - -
-?/. - c.1001G>A likely benign r.(?) p.(Gly334Asp) - - -
?/. - c.1025C>A VUS r.(?) p.(Ala342Asp) - - -
?/. - c.1104G>A VUS r.(?) p.(=) - - -
-/. - c.1127C>T benign r.(?) p.(Pro376Leu) - - -
-?/. - c.1127C>T likely benign r.(?) p.(Pro376Leu) - - -
-/. - c.1127C>T benign r.(?) p.(Pro376Leu) - - -
-?/. - c.1129G>C likely benign r.(?) p.(Gly377Arg) - - -
-?/. - c.1167T>A likely benign r.(?) p.(Asp389Glu) - - -
-?/. - c.1180_1181insGCAGCCCCT likely benign r.(?) p.(Ala394delinsGlySerProSer) - - -
-?/. - c.1188_1196dup likely benign r.(?) p.(Ala398_Ala400dup) - - -
-/. - c.1188_1196dup benign r.(?) p.(Ala398_Ala400dup) - - -
-/. - c.1188_1196dup benign r.(?) p.(Ala398_Ala400dup) - - -
-?/. - c.1201G>A likely benign r.(?) p.(Asp401Asn) - - -
-?/. - c.1221C>G likely benign r.(?) p.(=) - - -
?/. - c.1221C>G VUS r.(?) p.(=) - - -
?/. - c.1221C>G VUS r.(?) p.(=) - - -
-/. - c.1233_1259del benign r.(?) p.(Thr415_Gly423del) - - -
?/. - c.1233_1259del VUS r.(?) p.(Thr415_Gly423del) - - -
?/. - c.1280C>A VUS r.(?) p.(Ala427Asp) - - -
-?/. - c.1299A>G likely benign r.(?) p.(=) - - -
-?/. - c.1307C>A likely benign r.(?) p.(Ala436Asp) - - -
-?/. - c.1307C>A likely benign r.(?) p.(Ala436Asp) - - -
-?/. - c.1329C>T likely benign r.(?) p.(=) - - -
?/. - c.1330G>A VUS r.(?) p.(Gly444Arg) - - -
-?/. - c.1335G>A likely benign r.(?) p.(=) - - -
-?/. - c.1343A>C likely benign r.(?) p.(Asp448Ala) - - -
?/. - c.1366G>A VUS r.(?) p.(Gly456Arg) - - -
-/. - c.1376C>G benign r.(?) p.(Pro459Arg) - - -
-?/. - c.1377_1378insTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG likely benign r.(?) p.(Asp460*) - - -
-?/. - c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC likely benign r.(?) p.(Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) - - -
-?/. - c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC likely benign r.(?) p.(Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) - - -
?/. - c.1395A>C VUS r.(?) p.(=) - - -
?/. - c.1398T>C VUS r.(?) p.(=) - - -
?/. - c.1399G>T VUS r.(?) p.(Ala467Ser) - - -
-?/. - c.1428C>G likely benign r.(?) p.(=) - - -
-?/. - c.1428C>G likely benign r.(?) p.(=) - - -
?/. - c.1445C>T VUS r.(?) p.(Thr482Ile) - - -
-/. - c.1455C>A benign r.(?) p.(=) - - -
?/. - c.1455C>A VUS r.(?) p.(=) - - -
-?/. - c.1462G>A likely benign r.(?) p.(Ala488Thr) - - -
-?/. - c.1518G>A likely benign r.(?) p.(=) - - -
-/. - c.1524C>T benign r.(?) p.(=) - - -
-?/. - c.1524C>T likely benign r.(?) p.(=) - - -
?/. - c.1548A>T VUS r.(?) p.(=) - - -
?/. - c.1553C>T VUS r.(?) p.(Pro518Leu) - - -
-?/. - c.1571G>A likely benign r.(?) p.(Arg524His) - - -
-?/. - c.1590C>T likely benign r.(?) p.(=) - - -
?/. - c.1648G>A VUS r.(?) p.(Ala550Thr) - - -
?/. - c.1680C>A VUS r.(?) p.(=) - - -
-/. - c.1798C>G benign r.(?) p.(Arg600Gly) - - -
-/. - c.1798C>G benign r.(?) p.(Arg600Gly) - - -
-?/. - c.1798C>G likely benign r.(?) p.(Arg600Gly) - - -
-?/. - c.1845C>T likely benign r.(?) p.(=) - - -
?/. - c.1923G>C VUS r.(?) p.(=) - - -
-?/. - c.1923G>C likely benign r.(?) p.(=) - - -
-?/. - c.1939C>G likely benign r.(?) p.(Gln647Glu) - - -
?/. - c.2002C>T VUS r.(?) p.(Leu668Phe) - - -
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