Transcript #00024177 (NM_023110.2, FGFR1 gene)

Transcript name transcript variant 1
Gene name FGFR1 (fibroblast growth factor receptor 1)
Chromosome 8
Transcript - NCBI ID NM_023110.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_075598.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2016-10-11 13:14:38 +02:00 (CEST)
Date last edited N/A


Variants

395 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-699C>T r.(?) p.(=)
-/. - c.-636C>T r.(?) p.(=)
-/. - c.-385G>A r.(?) p.(=)
-?/. - c.-358C>T r.(?) p.(=)
-/. - c.-89+173C>T r.(=) p.(=)
?/. - c.-88-3729T>G r.(=) p.(=)
?/. - c.-88-3566dup r.(=) p.(=)
-?/. - c.-33G>A r.(?) p.(=)
?/. - c.-2G>T r.(?) p.(?)
+?/+? 2 c.-1G>A r.(=) p.(=)
+/. _1_1i c.-3614_-89+1_-88-1)del r.0? p.0?
?/. - c.? r.(?) p.(Arg91Trp)
+/+ 2 c.11G>A r.(?) p.(Trp4*)
+/+ 2 c.12G>A r.(?) p.(Trp4*)
?/. - c.17G>A r.(?) p.(Cys6Tyr)
+/+ 2 c.27del r.(?) p.(Trp10Glyfs*93)
+?/+? 2 c.47C>G r.(?) p.(Ala16Gly)
-?/. - c.47C>T r.(?) p.(Ala16Val)
-?/. - c.66G>C r.(?) p.(Arg22Ser)
-?/. - c.66G>C r.(?) p.(Arg22Ser)
-/. - c.75G>A r.(?) p.(Pro25=)
-?/. - c.75G>A r.(?) p.(Pro25=)
+/. - c.91+1G>A r.spl? p.?
+/+ 2i c.91+2T>A r.spl? p.?
-?/. - c.92-10361G>A r.(=) p.(=)
-/. - c.92-10346G>A r.(=) p.(=)
?/. - c.94C>G r.(?) p.(Gln32Glu)
+?/. - c.103G>A r.(?) p.(Gly35Arg)
+/+ 3 c.142G>A r.(?) p.(Gly48Ser)
?/. - c.160C>T r.(?) p.(Arg54Cys)
+/+ 3 c.165_171del r.(?) p.(Arg56Glyfs*45)
?/. - c.173G>A r.(?) p.(Arg58Gln)
-/. - c.177C>T r.(?) p.(Asp59=)
+?/+? 3 c.203_217dup r.(?) p.(Arg68_Gln72dup)
+/. - c.208G>A r.(208g>a) p.(Gly70Arg)
+/+ 3 c.208G>C r.(?) p.(Gly70Arg)
+/. - c.211G>A r.(211g>a) p.(Val71Met)
?/. - c.212T>G r.(?) p.(Val71Gly)
+?/+? 3 c.231C>G r.(?) p.(Asn77Lys)
+/. - c.232C>T r.(?) p.(Arg78Cys)
+/+ 3 c.232C>T r.(?) p.(Arg78Cys)
+/+ 3 c.246_247del r.(?) p.(Glu84Glyfs*26)
+/+ 3 c.286T>C r.(?) p.(Ser96Pro)
+?/. - c.287C>G r.(?) p.(Ser96Cys)
+/. - c.289G>A r.(?) p.(Gly97Ser)
+/. 3 c.289G>A r.(?) p.(Gly97Ser)
+?/+? 3 c.289G>A r.(?) p.(Gly97Ser)
+/. - c.289G>C r.(289g>c) p.(Gly97Arg)
+/+ 3 c.290G>A r.(?) p.(Gly97Asp)
+/+ 3 c.296A>G r.(?) p.(Tyr99Cys)
+/. - c.296A>G r.(?) p.(Tyr99Cys)
+/. 3 c.296A>G r.(?) p.(Tyr99Cys)
+?/+? 3 c.301T>G r.(?) p.(Cys101Gly)
+/+ 3 c.302G>T r.(?) p.(Cys101Phe)
+/+ 3 c.303C>A r.(?) p.(Cys101*)
-/. - c.303C>T r.(?) p.(Cys101=)
+/+ 3 c.303_304insCC r.(?) p.(Val102Profs*2)
+/+ 3 c.319T>A r.(?) p.(Ser107Thr)
+/+ 3 c.320C>A r.(?) p.(Ser107*)
-?/. - c.320C>T r.(?) p.(Ser107Leu)
-/. - c.320C>T r.(?) p.(Ser107Leu)
+/+ 3 c.326dup r.(?) p.(Ser109Argfs*2)
+/+ 3 c.327del r.(?) p.(Ser109Argfs*43)
-/. - c.345C>T r.(?) p.(Ser115=)
-/. - c.345C>T r.(?) p.(Ser115=)
-?/. - c.346G>A r.(?) p.(Val116Ile)
+/+ 3 c.346G>A r.(?) p.(Val116Ile)
+?/+? 3 c.347T>G r.(?) p.(Val116Gly)
+/+ 3 c.350A>G r.(?) p.(Asn117Ser)
?/. - c.359-2A>G r.spl? p.?
?/. - c.386A>C r.(?) p.(Asp129Ala)
+/+ 4 c.386A>C r.(?) p.(Asp129Ala)
?/. - c.386A>C r.(?) p.(Asp129Ala)
?/. - c.390_398dup r.(?) p.(Asp131_Asp133dup)
-?/. - c.396_398del r.(?) p.(Asp133del)
-?/. - c.396_398dup r.(?) p.(Asp133dup)
+/+ 4 c.407C>A r.(?) p.(Ser136*)
+/+ 4 c.412G>T r.(?) p.(Glu138*)
+/+ 4 c.416A>G r.(?) p.(Lys139Arg)
+/+ 4 c.418G>T r.(?) p.(Glu140*)
+?/+? 4 c.422C>G r.(?) p.(Thr141Arg)
+/+ 4 c.424_427del r.(?) p.(Asp142Thrfs*9)
?/. - c.443G>A r.(?) p.(Arg148His)
+/+ 4 c.443G>A r.(?) p.(Arg148His)
?/. - c.445A>G r.(?) p.(Met149Val)
-/. - c.449-9C>G r.(=) p.(=)
-?/. - c.449-9C>G r.(=) p.(=)
-/. - c.449-9C>G r.(=) p.(=)
-?/. - c.449-9C>G r.(=) p.(=)
+?/. - c.449-6G>A r.(=) p.(=)
+/. - c.479del r.(?) p.(Lys160Argfs*15)
+/+ 5 c.482T>C r.(?) p.(Met161Thr)
+/+ 5 c.494T>C r.(?) p.(Leu165Ser)
+/+ 5 c.499G>T r.(?) p.(Ala167Ser)
+/+ 5 c.506C>T r.(?) p.(Pro169Leu)
+/+ 5 c.521T>C r.(?) p.(Val174Ala)
+/+ 5 c.533G>C r.(?) p.(Cys178Ser)
+/+ 5 c.565C>T r.(?) p.(Arg189Cys)
+/+ 5 c.570G>A r.(?) p.(Trp190*)
+/+ 5 c.572T>C r.(?) p.(Leu191Ser)
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