Transcript #00023857 (NM_144997.5, FLCN gene)

Transcript name transcript variant 1
Gene name FLCN (folliculin)
Chromosome 17
Transcript - NCBI ID NM_144997.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_659434.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

817 entries on 9 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ _1_1i c.-6544_-228+454delins-3779_-3655inv r.(?) p.?
+/+ _1_1i c.-5575_-228+341delinsCCCCCATGG r.(?) p.?
+/+ _1_1i c.-4174_-227-1566del r.(?) p.?
+/+ _1_1i c.(?_-504)_(-228+1_-227-1)del r.spl? p.?
+/+ _1_1i c.(?_-504)_(-228+1_-227-1)del r.(?) p.?
-/- 1 c.-487G>C r.(?) p.(?)
-/- 1 c.-302G>A r.(?) p.(?)
-/- 1 c.-299C>T r.(?) p.(?)
+/+ 1i_12i c.(-228+1_-227-1)_(1432+1_1433-1)dup r.(?) p.?
-/- 1i c.-228+1368G>T r.(?) p.(?)
+/+ 1i_5i c.-227-853_397-295del r.(?) p.?
?/. - c.-114+5G>C r.spl? p.?
-/. 1 c.-93C>T r.(?) p.(=)
-/- 3 c.-90A>G r.(?) p.(?)
-/- 3i c.-25+100C>G r.(?) p.(?)
-?/. - c.-12C>T r.(?) p.(=)
+?/+? 1 c.(?-504)_(-228+1_-227-1)del r.(?) p.?
-/- 3i c.1-64A>G r.(?) p.(?)
+/+ 4 c.1A>G r.(?) p.(Met1?)
./. - c.1G>A - -
+/+ 4 c.3del r.(?) p.(Met1?)
+/+ 4 c.3delG r.? p.?
+?/+ 4 c.3G>A r.? p.?
+?/+ 4 c.3G>A r.(?) p.(Met1?)
+/. 4 c.17_21del r.(?) p.(Ala6Valfs*29)
+?/. 4 c.17_21del r.(?) p.(Ala6Valfs*29)
+?/+? 4 c.20T>C r.(?) p.(Leu7Pro)
+?/+? 4 c.31T>C r.(?) p.(Cys11Arg)
+?/. - c.49dup r.(?) p.(Arg17ProfsTer20)
+/+ 4 c.50G>C r.(?) p.(Arg17Pro)
+/+ 4 c.57_58del r.(?) p.(Phe20Leufs*16)
+/+ 4 c.57_58del r.(?) p.(Phe20Leufs*16)
+/+ 4 c.57_58del r.(?) p.(Phe20Leufs*16)
+/+ 4 c.57_58del r.(?) p.(Phe20Leufs*16)
+/+ 4 c.57_58del r.(?) p.(Phe20Leufs*16)
+/+ 4 c.59del r.(?) p.(Phe20Serfs*35)
+/+ 4 c.59del r.(?) p.(Phe20Serfs*35)
+/+ 4 c.59del r.(?) p.(Phe20Serfs*35)
+?/? 4 c.65C>A r.(?) p.(Thr22Lys)
+/+ - c.67G>T r.(?) p.(Glu23*)
+/+ 4 c.97dup r.(?) p.(Asp33Glyfs*4)
+/+ - c.119del r.(?) p.(Gly40Alafs*15)
+/+ 4 c.145G>T r.(?) p.(Glu49*)
+/+ 4 c.147del r.(?) p.(Gly50Valfs*5)
+/+ 4 c.155del r.(?) p.(Gln53Argfs*2)
+/+ 4 c.157C>T r.(?) p.(Gln53*)
+/+ 4 c.158del r.(?) p.(Gln53Argfs*2)
+/+ 4 c.158del r.(?) p.(Gln53Argfs*2)
+/. 4 c.158del r.(?) p.(Gln53Argfs*2)
?/. - c.176G>C r.(?) p.(Arg59Pro)
+/+ 4 c.185del r.(?) p.(Ser62Thrfs*68)
?/. - c.188C>A r.(?) p.(Pro63His)
+/+ 4 c.199dup r.(?) p.(Ala67Glyfs*33)
./. - c.205G>A r.(?) p.(Val69Ile)
+/+ 4 c.214del r.(?) p.(Ser72Alafs*58)
-/- 1i c.229+994A>G r.(?) p.(?)
+/+ 4 c.233del r.(?) p.(Lys78Serfs*52)
+/+ 4 c.235_238del r.(?) p.(Ser79Thrfs*50)
+/+ 4 c.240del r.(?) p.(Asp80Glufs*50)
+/+ 4 c.241del r.(?) p.(Met81Cysfs*49)
-?/. - c.246C>T r.(?) p.(Cys82=)
-?/. - c.246C>T r.(?) p.(Cys82=)
+/+ 4i c.249+1G>A r.spl? p.?
+/+ 4i c.249+1G>A r.spl? p.?
+/+ 4i c.249+1G>T r.spl? p.?
+/+ 4i c.250-2A>G r.spl p.?
+/+ 4i c.250-2A>G r.spl? p.?
+/+ 4i c.250-2A>G r.spl? p.?
+/+ 4i c.250-2A>G r.spl? p.?
+/+ 4i c.250-2A>G r.spl? p.?
+/+ 4i c.250-1G>A r.spl p.?
+/+ 5 c.250delG r.(?) p.(Gly84Alafs*46)
+/+ 4i-5i c.(249+1_250-1)_(396+1_397-1)del r.(=) p.(=)
+/+ 4i-14 c.(249+1_250-1)_(*1_?)del r.(?) p.(?)
+/+ 5 c.252del r.(?) p.(Cys85Alafs*45)
+/+ 5 c.252_253insG r.(?) p.(Cys85Valfs*15)
+/+ 5 c.256_269del r.(?) p.(Ser87Alafs*8)
+/+ 5 c.260C>G r.(?) p.(Ser87*)
-?/. - c.268G>T r.(?) p.(Ala90Ser)
./. - c.268G>T r.(?) p.(Ala90Ser)
-?/. - c.268G>T r.(?) p.(Ala90Ser)
+/+ 5 c.296del r.(?) p.(Asp99Valfs*31)
+/+ 5 c.296del r.(?) p.(Asp99Valfs*31)
+/+ 5 c.318C>G r.(?) p.(Tyr106*)
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26)
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26)
+/. 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26)
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26)
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26)
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26)
+/. 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26)
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26)
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26)
+/+ 5 c.323G>T r.(?) p.(Ser108Ile)
+?/+? 5 c.323G>T r.(?) p.(Ser108Ile)
+/+ 5 c.328C>T r.(?) p.(Gln110*)
+/+ 5 c.332_349del r.(?) p.(His111_Gln116del)
+/+ 5 c.332_349del r.(?) p.(His111_Gln116del)
+/+ 5 c.332_349del r.(?) p.(His111_Gln116del)
+/+ 5 c.332_349del r.(?) p.(His111_Gln116del)
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9     Next › Last »