Transcript #00023857

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

267 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/+ _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.(?) 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.?
-/. 1 c.-93C>T - r.(?) p.(=)
-/- 3 c.-90A>G - r.(?) p.(?)
-/- 3i c.-25+100C>G - r.(?) p.(?)
+/+ _1_1 c.c.-6544_-228+454delins-3779_-3655inv - r.(?) p.?
-/- 3i c.1-64A>G - r.(?) p.(?)
+/+ 4 c.1A>G - r.(?) p.?
./. - c.1G>A - - -
+/+ 4 c.3delG - r.(?) p.?
+?/+ 4 c.3G>A - r.(?) p.?
+?/+? 4 c.20T>C - r.(?) p.(Leu7Pro)
+/+ 4 c.50G>C - r.(?) p.(Arg17Pro)
+/+ 4 c.59delT - r.(?) p.(Phe20Serfs*35)
+/+ 4 c.97dupG - r.(?) p.(Asp33Glyfs*4)
+/+ 4 c.147delA - r.(?) p.(Gly50Valfs*5)
+/. 4 c.158del - r.(?) p.(Gln53Argfs*2)
./. - c.205G>A - r.(?) p.(Val69Ile)
-/- 1i c.229+994A>G - r.(?) p.(?)
+/+ 4 c.235_238del - r.(?) p.(Ser79Thrfs*50)
+/+ 4 c.240delC - r.(?) p.(Asp80Glufs*50)
-?/. - c.246C>T likely benign r.(=) p.(=)
+/+ 4i c.250-2A>G - r.spl p.?
+/+ 4i c.250-1G>A - r.spl p.?
+/+ 5 c.252delC - r.(?) p.(Cys85Alafs*45)
-?/. - c.268G>T likely benign r.(?) p.(Ala90Ser)
./. - c.268G>T - r.(?) p.(Ala90Ser)
+/+ 5 c.296delA - r.(?) p.(Asp99Valfs*31)
+/+ 5 c.319_320delGTinsCAC - r.(?) p.(Val107Hisfs*26)
+/. 5 c.319_320delinsCAC - r.(?) p.(Val107Hisfs*26)
+/. 5 c.319_320delinsCAC pathogenic r.(?) p.(Val107Hisfs*26)
+?/+? 5 c.323G>T - r.(?) p.(Ser108Ile)
+/+ 5 c.328C>T - r.(?) p.(Gln110*)
+?/+? 5 c.332_349del - r.(?) p.(His111_Gln116del)
?/. - c.334C>G VUS r.(?) p.(Pro112Ala)
+/+ 5 c.340dupC - r.(?) p.(His114Profs*19)
+/+ 5 c.347dup - r.(?) p.(Leu117Alafs*16)
+?/? 5 c.347dup - r.(?) p.(Leu117Alafs*16)
+/+ 5 c.394G>A - r.(?) p.(Glu132Lys)
?/. - c.396+4A>G VUS r.spl? p.?
-/- 5i c.396+59T>C - r.(?) p.(=)
-/- 5i c.396+59T>C - r.(?) p.(=)
-/. - c.397-14C>T benign r.(=) p.(=)
-/. - c.397-14C>T benign r.(=) p.(=)
-/- 5i c.397-14C>T - r.(?) p.(=)
-/. - c.397-14C>T benign r.(=) p.(=)
-/. - c.397-13G>A benign r.(=) p.(=)
-/- 5i c.397-13G>A - r.(?) p.(=)
+/+ 5i c.397-10_397-1del - r.spl p.(=)
+/+ 5i c.397-7_399del - r.spl p.?
+/+ 5i c.397-1G>C - Exon 6 skip p.?
+/+ 6 c.404delC - r.(?) p.(Pro135Leufs*42)
+/+ 6 c.420delC - r.(?) p.(Ile141Serfs*36)
+/+ 6 c.443_459del - r.(?) p.(His148Profs*46)
+/+ 6 c.453delG - r.(?) p.(Phe152Serfs*25)
+?/+? 6 c.469_471delTTC - r.(?) p.(Phe157del)
+/+ 6 c.499C>T - r.(?) p.(Gln167*)
+/+ 6 c.510C>A - r.(?) p.(Tyr170*)
+/+ 6 c.543C>G - r.(?) p.(Tyr181*)
?/. - c.552C>A VUS r.(?) p.(Asn184Lys)
+/+ 6 c.563delT - r.(?) p.(Phe188Serfs*35)
+/+ 6 c.566_577delTGCTGGGGAAGGinsCC - r.(?) p.(Leu189Profs*31)
+/. 6 c.573del - r.(?) p.(Lys192Argfs*31)
./. - c.580C>T - r.(?) p.(Arg194Trp)
+/+ 6 c.583G>T - r.(?) p.(Gly195*)
+/+ 6 c.584delG - r.(?) p.(Gly195Glufs*28)
+/+ 6 c.610_611delGCinsTA - r.(?) p.(Ala204*)
+/. 6 c.610_611delinsTA pathogenic r.(?) p.(Ala204*)
+/. 6 c.610_611delinsTA pathogenic r.(?) p.(Ala204*)
+/. 6 c.610_611delinsTA pathogenic r.(?) p.(Ala204*)
+/. 6 c.610_611delinsTA pathogenic r.(?) p.(Ala204*)
+/+? 6i c.618+2T>A - r.spl p.?
-/- 6i c.619-66C>T - r.(?) p.(=)
-/- 6i c.619-66C>T - r.(?) p.(=)
-?/. - c.619-20C>T likely benign r.(=) p.(=)
+/. - c.619-1G>A pathogenic r.spl? p.?
+/+ 6i c.619-1G>A - r.spl p.?
+/+ 6i_14_ c.(618+1_619-1)_(*1_?)del - r.(?) p.(?)
+/+ 7 c.632_633delAGinsC - r.(?) p.(Glu211Alafs*12)
+/+ 7 c.637delT - r.(?) p.(Phe213Leufs*10)
+/+ 7 c.649C>T - r.(?) p.(Gln217*)
+/+ 7 c.655dupG - r.(?) p.(Ala219Glyfs*29)
+/+ 7 c.671_672delCA - r.(?) p.(Thr224Serfs*23)
+/+ 7 c.689dupT - r.(?) p.(His231Thrfs*17)
+?/+? 7 c.715C>T - r.(?) p.(Arg239Cys)
?/. - c.715C>T VUS r.(?) p.(Arg239Cys)
./. - c.715C>T - r.(?) p.(Arg239Cys)
+/. 7 c.715C>T - r.(?) p.(Arg239Cys)
-/- 7 c.726A>T - r.(=) p.(Thr242=)
-/. - c.726A>T benign r.(=) p.(=)
-/. - c.726A>T benign r.(=) p.(=)
-/- 7 c.726A>T - r.(?) p.(=)
+/+ 7 c.769_771del - r.(?) p.(Ser257del)
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