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

128 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.-190816_*2310764del - r.0 p.0 - - -
-?/. - c.398C>T likely benign r.(?) p.(Pro133Leu) - - -
?/. - c.539C>T VUS r.(?) p.(Pro180Leu) - - -
-?/. - c.632_634del likely benign r.(?) p.(Glu213del) - - -
+?/. 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+12452C>G VUS r.(=) p.(=) - - -
-?/. - c.*42+12458G>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+12533G>A 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+12904T>C likely benign r.(=) p.(=) - - -
-/. - c.*42+13006G>A 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+13276C>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13324C>T likely benign r.(=) p.(=) - - -
-?/. - c.*42+13369C>T likely benign r.(=) p.(=) - - -
?/. - c.*42+13404C>A VUS r.(=) p.(=) - - -
-?/. - c.*42+13483G>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13546T>A likely benign r.(=) p.(=) - - -
-/. - c.*42+13558_*42+13559insCAGCCCCTG benign r.(=) p.(=) - - -
-?/. - c.*42+13567_*42+13575dup likely benign r.(=) p.(=) - - -
-?/. - c.*42+13600C>G likely benign r.(=) p.(=) - - -
?/. - c.*42+13600C>G VUS r.(=) p.(=) - - -
-?/. - c.*42+13600C>G likely benign r.(=) p.(=) - - -
-/. - c.*42+13607_*42+13633del benign r.(=) p.(=) - - -
?/. - c.*42+13607_*42+13633del VUS r.(=) p.(=) - - -
-?/. - c.*42+13607_*42+13633del likely benign r.(=) p.(=) - - -
-?/. - c.*42+13659C>A likely benign r.(=) p.(=) - - -
?/. - c.*42+13709G>A VUS r.(=) p.(=) - - -
?/. - c.*42+13745G>A VUS r.(=) p.(=) - - -
-?/. - c.*42+13754_*42+13755insTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG likely benign r.(=) p.(=) - - -
-?/. - c.*42+13754_*42+13755insTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG likely benign r.(=) p.(=) - - -
-?/. - c.*42+13773_*42+13774insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC likely benign r.(=) p.(=) - - -
-?/. - c.*42+13774A>C likely benign r.(=) p.(=) - - -
-?/. - c.*42+13774A>C likely benign r.(=) p.(=) - - -
-?/. - c.*42+13777T>C likely benign r.(=) p.(=) - - -
-?/. - c.*42+13777T>C likely benign r.(=) p.(=) - - -
-?/. - c.*42+13778G>T likely benign r.(=) p.(=) - - -
-?/. - c.*42+13778G>T likely benign 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+13834C>A VUS r.(=) p.(=) - - -
-?/. - c.*42+13834C>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+13897G>A likely benign r.(=) p.(=) - - -
-?/. - c.*42+14059C>A likely benign r.(=) p.(=) - - -
-/. - c.*42+14177C>G benign r.(=) p.(=) - - -
-?/. - c.*42+14224C>T likely benign r.(=) p.(=) - - -
-?/. - c.*42+14381C>T likely benign r.(=) p.(=) - - -
-?/. - c.*42+14403A>T likely benign r.(=) p.(=) - - -
?/. - c.*43-3885A>G - r.(=) p.(=) - - -
?/. - c.*43-3885A>G - r.(=) p.(=) - - -
?/. - c.*43-3884T>G - r.(=) p.(=) - - -
?/. - c.*43-3883G>A - r.(=) p.(=) - - -
?/. - c.*43-3865dupT - r.(=) p.(=) - - -
?/. - c.*43-3865dupT - r.(=) p.(=) - - -
?/. - c.*43-3865dupT - r.(=) p.(=) - - -
?/. - c.*43-3865dupT - r.(=) p.(=) - - -
+/. - c.*43-3801C>T pathogenic r.(=) p.(=) - - -
+?/. - c.*43-3801C>T - r.(=) p.(=) - - -
?/. - c.*43-3801C>T - r.(=) p.(=) - - -
?/. - c.*43-3801C>T - r.(=) p.(=) - - -
?/. - c.*43-3801C>T - r.(=) p.(=) - - -
?/. - c.*43-3801C>T - r.(=) p.(=) - - -
?/. - c.*43-3801C>T - r.(=) p.(=) - - -
?/. - c.*43-3783C>T - r.(=) p.(=) - - -
?/. - c.*43-3783C>T NA r.(=) p.(=) - - -
?/. - c.*43-3746G>C - r.(=) p.(=) - - -
?/. - c.*43-3746G>C - r.(=) p.(=) - - -
?/. - c.*43-3746G>T - r.(=) p.(=) - - -
?/. - c.*115+3_*115+6delAAGT - r.spl? p.? - - -
?/. - c.*206A>C Likely pathogenic r.(=) p.(=) - - -
?/. - c.*211C>T NA r.(=) p.(=) - - -
?/. - c.*250_*251insT - r.(=) p.(=) - - -
?/. - c.*250_*251insT - r.(=) p.(=) - - -
?/. - c.*250_*251insT - r.(=) p.(=) - - -
?/. - c.*250_*251insT - r.(=) p.(=) - - -
-/. - c.*299C>T benign r.(=) p.(=) - - -
-/. - c.*299C>T benign r.(=) p.(=) - - -
-/. - c.*338C>T benign r.(=) p.(=) - - -
-/. - c.*339-18T>C benign r.(=) p.(=) - - -
?/. - c.*375_*377delGAA - r.(=) p.(=) - - -
?/. - c.*382T>C VUS r.(=) p.(=) - - -
-/. - c.*461C>T benign r.(=) p.(=) - - -
?/. - c.*471_*474delGACT - r.(=) p.(=) - - -
?/. - c.*471_*474delGACT - r.(=) p.(=) - - -
?/. - c.*471_*474delGACT - r.(=) p.(=) - - -
?/. - c.*471_*474delGACT - r.(=) p.(=) - - -
?/. - c.*471_*474delGACT - r.(=) p.(=) - - -
?/. - c.*478_*479delTG - r.(=) p.(=) - - -
?/. - c.*492-1G>T - r.spl? p.? - - -
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