Transcript #00024158

Transcript name transcript variant 1
Gene name GNAS (GNAS complex locus)
Chromosome 20
Transcript - NCBI ID NM_000516.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000507.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

113 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     
+/. 1 c.1A>G - r.? p.? - - -
+/. 1 c.1A>G - r.? p.0? - - -
+?/. 1 c.2T>G - r.? p.? - - -
+?/. 1 c.3G>A - r.? p.? - - -
+?/. 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.28G>T - r.(?) p.(Glu10*) - - -
+?/. 1 c.43G>T - r.(?) p.(Glu15*) - - -
+?/. 1 c.69del - r.(?) p.(Asn23Lysfs*35) - - -
+?/. 1 c.69del - r.(?) p.(Asn23Lysfs*35) - - -
+?/. 1 c.70A>T - r.(?) p.(Lys24*) - - -
+/. - 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.89T>C - r.(?) p.(Leu30Pro) - - -
+?/. 1 c.100A>T - r.(?) p.(Lys34*) - 0.000 -
+?/. 1 c.103C>T - r.(?) p.(Gln35*) - - -
+/. - c.103C>T pathogenic r.(?) p.(Gln35*) - - -
+?/. 1 c.134T>C - r.(?) p.(Leu45Pro) Probably damaging 1.000 0
+?/. 1 c.137_139del - r.(?) p.(Leu46_Gly47delinsArg) - - -
+/. 1i c.139+1G>C - r.spl? p.? - - -
+/. 1i c.139+1G>C - r.spl? p.? - - -
+?/. 1i c.139+1G>T - r.spl? p.? - - -
+?/. 2 c.157A>G - r.(?) p.(Lys53Glu) Probably damaging 1.000 -
+?/. 2 c.161G>A - r.(?) p.(Ser54Asn) Probably damaging 1.000 -
+?/. 2 c.167_168delinsG - r.167_168delinsG p.Ile56Argfs*2 - 0.000 -
+/. - c.201_209del ACMG: 5 r.(?) p.(Phe68_Gly70del) - - -
+?/. 2i c.212+3_212+6delAAGT - r.spl? p.? - - -
+?/. 2i c.212+4dupA - r.(spl?) p.? - 0.000 -
-?/. 3 c.245G>A - r.(?) p.(Ser82Asn) Benign 0.058 -
+?/+? 4 c.288_290dupAAA - r.(?) p.(Lys96dup) - - -
+?/+? 4 c.288_290dupAAA - r.(?) p.(Lys96dup) - 0.000 -
+?/+? 4 c.288_290dupAAA - r.(?) p.(Lys96dup) - - -
+/. - c.300A>C Likely pathogenic r.(?) p.(Lys100Asn) - - -
+/. 4 c.305C>A - r.(?) p.(Ala102Glu) - - -
+/. 5 c.305C>A - r.(?) p.(Ala102Glu) - - -
+/. 4 c.305C>A - r.(?) p.(Ala102Glu) - - -
+/. - c.305C>T Likely pathogenic r.(?) p.(Ala102Val) - - -
+/. 4 c.308T>C - r.(?) p.(Ile103Thr) - - -
+/. 5 c.344_345insT - r.(?) p.(Val117Argfs*23) - - -
+?/. 5 c.344_345insT - r.(?) p.(Val117Argfs*23) - - -
+/. 5 c.344_345insT - r.(?) p.(Val117Argfs*23) - - -
+/. 5 c.344_345insT - r.(?) p.(Val117Argfs*23) - - -
+/. 5 c.344_345insT - r.(?) p.(Val117Argfs*23) - - -
+/. 5 c.348delC - r.(?) p.(Val117Trpfs*16) - - -
+?/. 5 c.392dup - r.(?) p.(Leu132Profs*8) - 0.000 -
-/. - c.393C>T benign r.(=) p.(=) - - -
-/. - c.393C>T benign r.(=) p.(=) - - -
+?/. 5 c.426_427insTCC - r.(?) p.(Phe142_Pro143insSer) - 0.000 -
+?/. 5 c.429dup - r.(?) p.(Pro144Serfs*5) - 0.000 -
-/. - c.432C>T benign r.(=) p.(=) - - -
+/+ 5i c.432+1G>A - r.313_432del p.(Thr105_Pro144del) - 0.000 -
./+? 5i c.432+1G>C - r.spl? p.? - 0.000 -
+?/. 5i c.432+2T>C - r.spl? p.? - 0.000 -
-/. - c.433-18T>C benign r.(=) p.(=) - - -
+?/. 6 c.467A>G - r.(?) p.(Asp156Gly) Possibly damaging 0.907 -
+?/. 6 c.469_471delGAA - r.(?) p.(Glu157del) - - -
?/. - c.476T>C VUS r.(?) p.(Val159Ala) - - -
+?/. 6 c.494G>A - r.(?) p.(Arg165His) Probably damaging 1.000 -
-/. - c.555C>T benign r.(=) p.(=) - - -
+/. 7 c.565_568delGACT - r.(?) p.(Asp189Metfs*14) - - -
+/. 7 c.565_568delGACT - r.(?) p.(Asp189Metfs*14) - - -
+/. 7 c.565_568delGACT - r.(?) p.(Asp189Metfs*14) - - -
+/. 7 c.565_568delGACT - r.(?) p.(Asp189Metfs*14) - - -
+/. 7 c.565_568delGACT - r.(?) p.(Asp189Metfs*14) - - -
+/. 7 c.565_568delGACT - r.(?) p.(Asp189Metfs*14) - - -
+?/. 7 c.569A>C - r.(?) p.(Tyr190Ser) - - -
+?/. 7 c.572_573delTG - r.(?) p.(Val191Alafs*18) - - -
+?/. 7i c.586-1G>T - r.spl? p.? - - -
+/. - c.601C>T pathogenic r.(?) p.(Arg201Cys) - - -
+?/. 8 c.624dupT - r.(?) p.(Glu209*) - - -
./. 8 c.656T>C - r.(?) p.(Phe219Ser) probably damaging 1.000 deleterious (0)
?/. - c.659+3A>G VUS r.spl? p.? - - -
?/. - c.662T>C VUS r.(?) p.(Met221Thr) - - -
+?/. - c.704T>C likely pathogenic r.(?) p.(Ile235Thr) - - -
+?/. 10 c.731T>C - r.(?) p.(Ile244Thr) - - -
+?/. 10 c.750C>G - r.(?) p.(Ser250Arg) - - -
+?/. - c.763A>G ACMG: 4 r.(?) p.(Met255Val) - - -
?/. - c.772C>T VUS r.(?) p.(Arg258Trp) - - -
+?/. 10 c.772C>T - r.(?) p.(Arg258Trp) - - -
+?/. - c.773G>A likely pathogenic r.(?) p.(Arg258Gln) - - -
+?/. - c.794G>A likely pathogenic r.(?) p.(Arg265His) - - -
+?/. 10 c.827T>G - r.(?) p.(Ile276Ser) - - -
+?/. 10 c.827T>G - r.(?) p.(Ile276Ser) - - -
+?/. 10 c.827T>G - r.(?) p.(Ile276Ser) - - -
+?/. 10 c.827T>G - r.(?) p.(Ile276Ser) - - -
+/. 10i c.840-2A>G - r.840_970del p.Arg280SerfsTer21 - - -
+?/. 11 c.877A>G - r.(?) p.(Lys293Glu) - - -
-?/. - c.920A>G likely benign r.(?) p.(Lys307Arg) - - -
?/. - c.964G>A VUS r.(?) p.(Glu322Lys) - - -
+/. - c.985G>T pathogenic r.(?) p.(Gly329*) - - -
+?/. - c.1006C>T likely pathogenic r.(?) p.(Arg336Trp) - - -
+/. 12 c.1027_1028delGA - r.(?) p.(Asp343*) - - -
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