Transcript #00000038

Transcript name Fraser syndrome 1, transcript variant 1
Gene name FRAS1 (Fraser syndrome 1)
Chromosome 4
Transcript - NCBI ID NM_025074.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_079350.5
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

327 entries on 4 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-23C>T benign r.(=) p.(=)
-/. - c.76+17_76+18insGT benign r.(=) p.(=)
-/. - c.76+19_76+20insGTGTGT benign r.(=) p.(=)
-?/. - c.76+35_76+36del likely benign r.(=) p.(=)
-/. - c.76+36C>T benign r.(=) p.(=)
-/. - c.95A>G benign r.(?) p.(Asp32Gly)
-/. - c.95A>G benign r.(?) p.(Asp32Gly)
+/. - c.108+2T>C pathogenic r.spl? p.?
-/. - c.108+114A>C benign r.(=) p.(=)
-/. - c.108+115C>A benign r.(=) p.(=)
-/. - c.108+158A>G benign r.(=) p.(=)
-/. - c.108+2460G>A benign r.(=) p.(=)
-/. - c.108+2502G>C benign r.(=) p.(=)
-/. - c.108+2546T>C benign r.(=) p.(=)
-/. - c.108+2546T>C benign r.(=) p.(=)
-/. - c.108+2672G>A benign r.(=) p.(=)
-/. - c.108+2769G>A benign r.(=) p.(=)
-/. - c.109-32879C>T benign r.(=) p.(=)
-/. - c.160G>C benign r.(?) p.(Asp54His)
-/. - c.160G>C benign r.(?) p.(Asp54His)
-/. - c.216+72G>T benign r.(=) p.(=)
-/. - c.308A>T benign r.(?) p.(Glu103Val)
-/. - c.309+89T>G benign r.(=) p.(=)
-/. - c.310-30del benign r.(=) p.(=)
-/. - c.310-21T>C benign r.(=) p.(=)
+/. - c.370C>T pathogenic r.(?) p.(Arg124*)
-/. - c.380C>G benign r.(?) p.(Pro127Arg)
-/. - c.380C>G benign r.(?) p.(Pro127Arg)
-/. - c.470-71C>T benign r.(=) p.(=)
-?/. - c.527G>A likely benign r.(?) p.(Arg176Gln)
+/. - c.603+2T>A pathogenic r.spl? p.?
-/. - c.604-132G>A benign r.(=) p.(=)
-/. - c.604-132G>A benign r.(=) p.(=)
-/. - c.687+69C>T benign r.(=) p.(=)
-/. - c.687+122A>G benign r.(=) p.(=)
-/. - c.687+127A>G benign r.(=) p.(=)
-/. - c.688-156G>A benign r.(=) p.(=)
?/. - c.688-5T>G VUS r.spl? p.?
-?/. - c.776T>G likely benign r.(?) p.(Leu259Arg)
-/. - c.776T>G benign r.(?) p.(Leu259Arg)
-?/. - c.776T>G likely benign r.(?) p.(Leu259Arg)
-?/. - c.789+12T>G likely benign r.(=) p.(=)
-/. - c.789+72G>A benign r.(=) p.(=)
-?/. - c.847G>A likely benign r.(?) p.(Gly283Arg)
?/. - c.886G>A VUS r.(?) p.(Glu296Lys)
+/. - c.934C>T pathogenic r.(?) p.(Gln312*)
-/. - c.979C>T benign r.(?) p.(Arg327Trp)
-?/. - c.979C>T likely benign r.(?) p.(Arg327Trp)
-/. - c.981+9C>T benign r.(=) p.(=)
-?/. - c.1071+40A>T likely benign r.(=) p.(=)
-/. - c.1072-66A>G benign r.(=) p.(=)
-?/. - c.1072-5C>T likely benign r.spl? p.?
-?/. - c.1072-5C>T likely benign r.(=) p.(=)
-?/. - c.1093G>T likely benign r.(?) p.(Val365Phe)
-/. - c.1107+192G>A benign r.(=) p.(=)
-/. - c.1108-207del benign r.(=) p.(=)
-?/. - c.1142T>C likely benign r.(?) p.(Val381Ala)
?/. - c.1153C>T VUS r.(?) p.(Arg385*)
-/. - c.1255+88C>T benign r.(=) p.(=)
-/. - c.1256-124C>T benign r.(=) p.(=)
?/. - c.1270G>C VUS r.(?) p.(Asp424His)
-/. - c.1396T>A benign r.(?) p.(Leu466Ile)
-/. - c.1396T>A benign r.(?) p.(Leu466Ile)
-?/. - c.1399+6G>T likely benign r.(=) p.(=)
-/. - c.1399+45A>G benign r.(=) p.(=)
-/. - c.1534+91G>T benign r.(=) p.(=)
-?/. - c.1590C>T likely benign r.(=) p.(=)
-/. - c.1609G>A benign r.(?) p.(Val537Met)
-?/. - c.1643G>A likely benign r.(?) p.(Gly548Glu)
-/. - c.1678+72C>G benign r.(=) p.(=)
-?/. - c.1783G>A likely benign r.(?) p.(Gly595Ser)
-/. - c.1819+139T>C benign r.(=) p.(=)
-/. - c.1820-74T>C benign r.(=) p.(=)
-/. - c.1820-26G>A benign r.(=) p.(=)
+/. - c.1879_1880insC pathogenic r.(?) p.(Ser627Thrfs*22)
-?/. - c.1918C>T likely benign r.(?) p.(Arg640Cys)
-/. - c.1947T>C benign r.(=) p.(=)
-/. - c.1947T>C benign r.(=) p.(=)
-/. - c.2060A>G benign r.(?) p.(Asp687Gly)
-/. - c.2060A>G benign r.(?) p.(Asp687Gly)
-/. - c.2060A>G benign r.(?) p.(Asp687Gly)
?/. - c.2132G>A VUS r.(?) p.(Cys711Tyr)
-/. - c.2137+56C>G benign r.(=) p.(=)
-/. - c.2137+146A>C benign r.(=) p.(=)
-/. - c.2137+333C>T benign r.(=) p.(=)
-/. - c.2137+534C>T benign r.(=) p.(=)
?/. - c.2163T>G VUS r.(?) p.(Cys721Trp)
?/. - c.2266G>C VUS r.(?) p.(Gly756Arg)
-/. - c.2279-53G>A benign r.(=) p.(=)
-/. - c.2279-23C>A benign r.(=) p.(=)
?/. - c.2294G>A VUS r.(?) p.(Cys765Tyr)
-/. - c.2313G>T benign r.(=) p.(=)
?/. - c.2327G>A VUS r.(?) p.(Cys776Tyr)
?/. - c.2327G>T VUS r.(?) p.(Cys776Phe)
-/. - c.2422+146C>T benign r.(=) p.(=)
-/. - c.2450C>T benign r.(?) p.(Ala817Val)
-/. - c.2450C>T benign r.(?) p.(Ala817Val)
-/. - c.2576-61G>A benign r.(=) p.(=)
-?/. - c.2660C>G likely benign r.(?) p.(Thr887Ser)
?/. - c.2719C>T VUS r.(?) p.(Gln907*)
Legend   « First ‹ Prev     1 2 3 4     Next › Last »