Transcript #00024002

Transcript name transcript variant 6
Gene name GNAS (GNAS complex locus)
Chromosome 20
Transcript - NCBI ID NM_001077488.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001070956.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

410 entries on 5 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     
+?/. _1_13_ c.-242436_*2309673del - r.0 p.0 - - -
+?/. _1 c.-50129_-50089del - r.(=) p.(=) - - -
+?/. _1 c.-50129_-50089del - r.(=) p.(=) - - -
?/. _1 c.-48526_-48492del - r.(=) p.(=) - - -
+?/+ _1_5i c.-16812_433-37del - r,0? p.0? - - -
+?/+ _1_13_ c.(?_-1)_(*1_?)del - r,0? p.0? - - -
+?/+ _1_13_ c.(?_-1)_(*1_?)del - r,0? p.0? - - -
+?/. _1 c.-1959bsrC - r.(=) p.(=) - - -
+?/. _1 c.-1966bsrC - r.(=) p.(=) - - -
+?/. _1 c.-1969bsrC - r.(=) p.(=) - - -
+?/. _1 c.-1971bsrC - r.(=) p.(=) - - -
+?/. _1 c.-1979bsrC - r.(=) p.(=) - - -
+?/. _1 c.-1985bsrC - r.(=) p.(=) - - -
+?/. _1 c.-1987bsrC - r.(=) p.(=) - - -
+?/. _1 c.-1992bsrC - r.(=) p.(=) - - -
+?/. _1 c.-1994bsrC - r.(=) p.(=) - - -
+?/. _1 c.-2002bsrC - r.(=) p.(=) - - -
+?/. _1 c.-2009bsrC - r.(=) p.(=) - - -
+?/. _1 c.-2009_-1959bsrC - r.(=) p.(=) - - -
+?/+? 1 c.1-10_2del - r.(?) p.(0?) - - -
+/. 1 c.1A>G - r.? p.? - - -
+/. 1 c.1A>G - r.(?) p.Met1_Gln59del - - -
+/. 1 c.1A>G - r.? p.? - 0.000 -
+/. 1 c.1A>G - r.? p.? - - -
+?/. 1 c.2T>G - r.? p.? - - -
+?/+ 1 c.3G>A - r.? p.? - - -
+?/. 1 c.3G>A - r.? p.? - - -
+?/+? 1 c.7T>C - r.(?) p.(Cys3Arg) - - -
+?/. 1 c.8G>A - r.(?) p.(Cys3Tyr) Probably damaging 1.000 -
+?/. 1 c.21dupT - r.(?) p.(Lys8*) - - -
+?/. 1 c.21dupT - r.(?) p.(Lys8*) - - -
+?/. 1 c.21dupT - r.(?) p.(Lys8*) - - -
+?/. 1 c.21dupT - r.(?) p.(Lys8*) - - -
+?/+? 1 c.21dupT - r.(?) p.(Lys8*) - - -
+?/. 1 c.28G>T - r.(?) p.(Glu10*) - - -
+/. 1 c.34C>T - r.(?) p.(Gln12*) - - -
+/+? 1 c.34C>T - r.(?) p.(Gln12*) - - -
+/+? 1 c.34C>T - r.(?) p.(Gln12*) - - -
+?/. 1 c.43G>T - r.(?) p.(Glu15*) - - -
+?/. 1 c.69del - r.(?) p.(Asn23Lysfs*35) - - -
+?/. 1 c.69del - r.(?) p.(Asn23Lysfs*35) - - -
+?/. - c.70A>T - r.(?) p.(Lys24*) - - -
+/. 1 c.70_74delinsTGCGTGCAGAAG - r.(?) p.(Lys24Cysfs*35) - - -
+?/. 1 c.74del - r.(?) p.(Lys25Argfs*33) - - -
+/. 1 c.83dupA - r.(?) p.(Gln29Alafs*25) - - -
+/. 1 c.85C>T - r.(?) p.(Gln29*) - - -
+/. - c.85C>T pathogenic r.(?) p.(Gln29*) - - -
+/. 1 c.85C>T - r.(?) p.(Gln29*) - - -
+/. 1 c.85C>T - r.(?) p.(Gln29*) - - -
+?/. 1 c.85C>T - r.(?) p.(Gln29*) - - -
+?/. 1 c.85C>T - r.(?) p.(Gln29*) - - -
+?/. 1 c.85C>T - r.(?) p.(Gln29*) - - -
+/. 1 c.85C>T - r.(?) p.(Gln29*) - - -
+?/+? 1 c.85C>T - r.(?) p.(Gln29*) - - -
+?/+? 1 c.85C>T - r.(?) p.(Gln29*) - - -
+/. 1 c.85C>T - r.(?) p.(Gln29*) - - -
+?/+? 1 c.85C>T - r.(?) p.(Gln29*) - - -
+/. 1 c.85C>T - r.(?) p.(Gln29*) - - -
+?/+? 1 c.85C>T - r.(?) p.(Gln29*) - - -
+/. 1 c.85C>T - r.(?) p.(Gln29*) - - -
+/+? 1 c.85C>T - r.(?) p.(Gln29*) - - -
+/. 1 c.85C>T - r.(?) p.(Gln29*) - - -
+/. 1 c.89T>C - r.(?) p.(Leu30Pro) - - -
+?/. - c.89T>C - r.(?) p.(Leu30Pro) - - -
+?/+ 1 c.91C>T - r.(?) p.(Gln31*) - - -
+/. 1 c.91C>T - r.(?) p.(Gln31*) - - -
+/. 1 c.91C>T - r.(?) p.(Gln31*) - - -
+/. 1 c.91C>T - r.(?) p.(Gln31*) - - -
+?/+? 1 c.91C>T - r.(?) p.(Gln31*) - 0.000 -
+/+? 1 c.91C>T - r.(?) p.(Gln31*) - - -
+/. 1 c.93delG - r.(?) p.(Lys32Argfs*26) - - -
+/. 1 c.94A>T - r.(?) p.(Lys32*) - - -
+/. 1 c.94A>T - r.(?) p.(Lys32*) - - -
+/. 1 c.94_96del - r.(?) p.(Lys32del) - - -
+?/+? 1 c.97G>A - r.(?) p.(Asp33Asn) - - -
+?/. 1 c.100A>T - r.(?) p.(Lys34*) - 0.000 -
+/. 1 c.103C>T - r.(?) p.(Gln35*) - - -
+/. 1 c.103C>T - r.(?) p.(Gln35*) - - -
+/. 1 c.103C>T - r.(?) p.(Gln35*) - - -
+?/. 1 c.103C>T - r.(?) p.(Gln35*) - - -
+/. - c.103C>T pathogenic r.(?) p.(Gln35*) - - -
+/. 1 c.103C>T - r.(?) p.(Gln35*) - - -
+/. 1 c.103C>T - r.(?) p.(Gln35*) - - -
+/. 1 c.103C>T - r.(?) p.(Gln35*) - - -
+?/+? 1 c.110del - r.(?) p.(Tyr37Serfs*21) - - -
+/. 1 c.111C>G - r.(?) p.(Tyr37*) - - -
+/+? 1 c.112delC - r.(?) p.(Arg38Glyfs*19) - - -
+/. 1 c.115delG - r.(?) p.(fs*) - - -
+/. 1 c.119_139+17del - r.(?) p.(fs*) - - -
+/. 1 c.124C>A - r.(?) p.(Arg42Ser) - - -
+/. 1 c.124C>A - r.(?) p.(Arg42Ser) - - -
+/. 1 c.124C>T - r.(?) p.(Arg42Cys) - - -
+/+? 1 c.124C>T - r.(?) p.(Arg42Cys) - - -
+/+? 1 c.124C>T - r.(?) p.(Arg42Cys) - - -
+?/. 1 c.134T>C - r.(?) p.(Leu45Pro) Probably damaging 1.000 0
+?/+ 1 c.136_138dup - r.(?) p.(Leu46dup) - - -
+/. 1 c.136_138dup - r.(?) p.(Leu46dup) - - -
+?/. 1 c.137_139del - r.(?) p.(Leu46_Gly47delinsArg) - - -
+?/+ 1 c.139+1G>A - r.(?) p.(?) - - -
+/. 1i c.139+1G>C - r.spl? p.? - - -
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