Transcript #00024010

Transcript name transcript variant 4
Gene name GNAS (GNAS complex locus)
Chromosome 20
Transcript - NCBI ID NM_016592.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_057676.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

201 entries on 3 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.-190816_*2310764del - r.0 p.0 - - -
-?/. - c.57C>T likely benign r.(?) p.(=) - - -
?/. - c.68C>T VUS r.(?) p.(Pro23Leu) - - -
-/. - c.294C>T benign r.(?) p.(=) - - -
-?/. - c.387_410del likely benign r.(?) p.(Ala132_Thr139del) - - -
-?/. - c.398C>T likely benign r.(?) p.(Pro133Leu) - - -
-?/. - c.412G>A likely benign r.(?) p.(Glu138Lys) - - -
?/. - c.539C>T VUS r.(?) p.(Pro180Leu) - - -
-?/. - c.561C>A likely benign r.(?) p.(Ser187Arg) - - -
-?/. - c.592G>A likely benign r.(?) p.(Asp198Asn) - - -
?/. - c.637_639del VUS r.(?) p.(Glu213del) - - -
-?/. - c.639G>A likely benign r.(?) p.(=) - - -
-/. - c.651T>A benign r.(?) p.(=) - - -
-?/. - c.715C>A likely benign r.(?) p.(Pro239Thr) - - -
+?/. 1i c.*42+712_*42+752del - r.(=) p.(=) - - -
+?/. 1i c.*42+712_*42+752del - r.(=) p.(=) - - -
?/. 1i c.*42+2315_*42+2349del - r.(=) p.(=) - - -
-?/. - c.*42+12390G>A likely benign r.(=) p.(=) - - -
?/. - c.*42+12452C>G VUS r.(=) p.(=) - - -
-?/. - c.*42+12458G>A likely benign r.(=) p.(=) - - -
?/. - c.*42+12533G>A VUS r.(=) p.(=) - - -
-?/. - c.*42+12537C>G likely benign r.(=) p.(=) - - -
?/. - c.*42+12839T>C VUS r.(=) p.(=) - - -
-?/. - c.*42+12863A>G likely benign r.(=) p.(=) - - -
-?/. - c.*42+12863A>G likely benign r.(=) p.(=) - - -
-?/. - c.*42+12863A>G likely benign r.(=) p.(=) - - -
-?/. - c.*42+12863A>G likely benign r.(=) p.(=) - - -
-?/. - c.*42+12879A>G likely benign r.(=) p.(=) - - -
-/. - c.*42+12879A>G benign r.(=) p.(=) - - -
-?/. - c.*42+12904T>C likely benign r.(=) p.(=) - - -
?/. - c.*42+12917C>T VUS r.(=) p.(=) - - -
?/. - c.*42+12957G>A VUS r.(=) p.(=) - - -
-/. - c.*42+13006G>A benign r.(=) p.(=) - - -
-?/. - c.*42+13006G>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13007G>C likely benign r.(=) p.(=) - - -
-?/. - c.*42+13007G>C likely benign r.(=) p.(=) - - -
?/. - c.*42+13057T>G VUS r.(=) p.(=) - - -
?/. - c.*42+13099G>A VUS r.(=) p.(=) - - -
-?/. - c.*42+13151G>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13153C>T likely benign r.(=) p.(=) - - -
?/. - c.*42+13200C>T VUS r.(=) p.(=) - - -
-?/. - c.*42+13267G>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13276C>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13318C>G likely benign r.(=) p.(=) - - -
-?/. - c.*42+13324C>T likely benign r.(=) p.(=) - - -
-?/. - c.*42+13369C>T likely benign r.(=) p.(=) - - -
-?/. - c.*42+13380G>A likely benign r.(=) p.(=) - - -
?/. - c.*42+13404C>A VUS r.(=) p.(=) - - -
?/. - c.*42+13483G>A VUS r.(=) p.(=) - - -
-/. - c.*42+13506C>T benign r.(=) p.(=) - - -
-?/. - c.*42+13506C>T likely benign r.(=) p.(=) - - -
-/. - c.*42+13506C>T benign r.(=) p.(=) - - -
-?/. - c.*42+13508G>C likely benign r.(=) p.(=) - - -
-?/. - c.*42+13546T>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13559_*42+13560insGCAGCCCCT likely benign r.(=) p.(=) - - -
-?/. - c.*42+13567_*42+13575dup likely benign r.(=) p.(=) - - -
-/. - c.*42+13567_*42+13575dup benign r.(=) p.(=) - - -
-/. - c.*42+13567_*42+13575dup benign r.(=) p.(=) - - -
-?/. - c.*42+13580G>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13600C>G likely benign r.(=) p.(=) - - -
?/. - c.*42+13600C>G VUS r.(=) p.(=) - - -
?/. - c.*42+13600C>G VUS r.(=) p.(=) - - -
-/. - c.*42+13612_*42+13638del benign r.(=) p.(=) - - -
?/. - c.*42+13612_*42+13638del VUS r.(=) p.(=) - - -
?/. - c.*42+13659C>A VUS r.(=) p.(=) - - -
-?/. - c.*42+13678A>G likely benign r.(=) p.(=) - - -
-?/. - c.*42+13686C>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13686C>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13708C>T likely benign r.(=) p.(=) - - -
?/. - c.*42+13709G>A VUS r.(=) p.(=) - - -
-?/. - c.*42+13714G>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13722A>C likely benign r.(=) p.(=) - - -
?/. - c.*42+13745G>A VUS r.(=) p.(=) - - -
-/. - c.*42+13755C>G benign r.(=) p.(=) - - -
-?/. - c.*42+13756_*42+13757insTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG likely benign r.(=) p.(=) - - -
-?/. - c.*42+13773_*42+13774insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC likely benign r.(=) p.(=) - - -
-?/. - c.*42+13773_*42+13774insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC likely benign r.(=) p.(=) - - -
?/. - c.*42+13774A>C VUS r.(=) p.(=) - - -
?/. - c.*42+13777T>C VUS r.(=) p.(=) - - -
?/. - c.*42+13778G>T VUS r.(=) p.(=) - - -
-?/. - c.*42+13807C>G likely benign r.(=) p.(=) - - -
-?/. - c.*42+13807C>G likely benign r.(=) p.(=) - - -
?/. - c.*42+13824C>T VUS r.(=) p.(=) - - -
-/. - c.*42+13834C>A benign r.(=) p.(=) - - -
?/. - c.*42+13834C>A VUS r.(=) p.(=) - - -
-?/. - c.*42+13841G>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13897G>A likely benign r.(=) p.(=) - - -
-/. - c.*42+13903C>T benign r.(=) p.(=) - - -
-?/. - c.*42+13903C>T likely benign r.(=) p.(=) - - -
?/. - c.*42+13927A>T VUS r.(=) p.(=) - - -
?/. - c.*42+13932C>T VUS r.(=) p.(=) - - -
-?/. - c.*42+13950G>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13969C>T likely benign r.(=) p.(=) - - -
?/. - c.*42+14027G>A VUS r.(=) p.(=) - - -
?/. - c.*42+14059C>A VUS r.(=) p.(=) - - -
-/. - c.*42+14177C>G benign r.(=) p.(=) - - -
-/. - c.*42+14177C>G benign r.(=) p.(=) - - -
-?/. - c.*42+14177C>G likely benign r.(=) p.(=) - - -
-?/. - c.*42+14224C>T likely benign r.(=) p.(=) - - -
?/. - c.*42+14302G>C VUS r.(=) p.(=) - - -
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