Unique variants in gene FLCN

Information The variants shown are described using the transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
+/+ 6 - c.(?) r.(?) p.(?) g.(?_17117107)_(17117107_17118313)del - FLCN_000061 - 2 more items Germline - FLCN exon 14 deletion - - Despoina Kalfakakou
?/? 1 - c.13G>A r.(?) p.(Val5Met) g.17131439C>T - FLCN_000040 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.236C>T r.(?) p.(Ser79Leu) g.17131216G>A - FLCN_000043 rs137852930 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.250-51_250-48del r.(=) p.(=) g.17129684_17129687del - FLCN_000017 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.250-46G>T r.(=) p.(=) g.17129682C>A - FLCN_000004 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.250-33A>G r.(=) p.(=) g.17129669T>C - FLCN_000045 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.265G>C r.(?) p.(Ala89Pro) g.17129621C>G - FLCN_000055 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.396+18A>G r.(=) p.(=) g.17129472T>C - FLCN_000037 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.397-52T>G r.(=) p.(=) g.17127509A>C - FLCN_000025 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.397-49G>A r.(=) p.(=) g.17127506C>T - FLCN_000015 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.399C>T r.(=) p.(=) g.17127455G>A - FLCN_000028 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.402C>T r.(=) p.(=) g.17127452G>A - FLCN_000014 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.404C>T r.(?) p.(Pro135Leu) g.17127450G>A - FLCN_000013 - - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.420del r.(?) p.(Ile141Serfs*36) g.17127434del - FLCN_000046 - - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.469_471del r.(?) p.(Phe157del) g.17127383_17127385del - FLCN_000059 rs786203218 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.567G>A r.(=) p.(=) g.17127287C>T - FLCN_000033 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.618+22C>T r.(=) p.(=) g.17127214G>A - FLCN_000027 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.619-20C>T r.(=) p.(=) g.17125995G>A - FLCN_000049 rs202217257 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.687C>T r.(=) p.(=) g.17125907G>A - FLCN_000035  rs754710935 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.708C>T r.(=) p.(=) g.17125886G>A - FLCN_000034 rs750394475 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.715C>T r.(?) p.(Arg239Cys) g.17125879G>A - FLCN_000023 rs78683075 - Germline - - - - Despoina Kalfakakou
?/? 5 - c.779+46_779+47del r.(=) p.(=) g.17125768_17125769del - FLCN_000003 - - Germline - - - - Despoina Kalfakakou
?/? 50 - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.780-14G>A r.(=) p.(=) g.17124956C>T - FLCN_000058 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.780-6C>T r.(=) p.(=) g.17124948G>A - FLCN_000029 rs752746072 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.789G>A r.(=) p.(=) g.17124933C>T - FLCN_000002 rs1483962771 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.792G>T r.(=) p.(=) g.17124930C>A - FLCN_000050 rs140500421 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.838G>A r.(?) p.(Glu280Lys) g.17124884C>T - FLCN_000056 rs1060502367 - Germline - - - - Despoina Kalfakakou
+/+ 8 - c.871+47G>A r.(=) p.(=) g.17124804C>T - FLCN_000012 rs142934950 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.871+413_871+414insC r.(?) p.(?) g.17124437_17124438insG - FLCN_000057 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.904T>C r.(?) p.(Ser302Pro) g.17122491A>G - FLCN_000022 - - Germline - - - - Despoina Kalfakakou
-?/-? 5 - c.959G>A r.(?) p.(Arg320Gln) g.17122436C>T - FLCN_000021  rs143483053 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1063-46A>G r.(=) p.(=) g.17120542T>C - FLCN_000054 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1087A>G r.(?) p.(Met363Val) g.17120472T>C - FLCN_000051 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1177-35C>T r.(=) p.(=) g.17119852G>A - FLCN_000026 - - Germline - - - - Despoina Kalfakakou
-?/-? 8 - c.1177-21G>A r.(=) p.(=) g.17119838C>T - FLCN_000011 rs150687840 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1189G>A r.(?) p.(Val397Met) g.17119805C>T - FLCN_000010 rs752006809 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1197C>T r.(=) p.(=) g.17119797G>A - FLCN_000044 rs750894316 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1265C>T r.(?) p.(Pro422Leu) g.17119729G>A - FLCN_000020 rs565447853 - Germline - - - - Despoina Kalfakakou
-?/-? 23 - c.1269C>T r.(=) p.(=) g.17119725G>A - FLCN_000001 rs41464156 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1278C>T r.(=) p.(=) g.17119716G>A - FLCN_000039 rs41459448 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.1281C>G r.(=) p.(=) g.17119713G>C - FLCN_000041 rs372207262 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1283C>G r.(?) p.(Pro428Arg) g.17119711G>C - FLCN_000009 - - Germline - - - - Despoina Kalfakakou
?/? 10 - c.1300+36C>T r.(=) p.(=) g.17119658G>A - FLCN_000019 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1301-40_1301-23del r.(=) p.(=) g.17118653_17118670del - FLCN_000024 - - Germline - - - - Despoina Kalfakakou
?/? 6 - c.1301-38G>T r.(=) p.(=) g.17118668C>A - FLCN_000006 rs368141995 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1301-20C>T r.(=) p.(=) g.17118650G>A - FLCN_000008 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1387T>C r.(?) p.(Tyr463His) g.17118544A>G - FLCN_000018  rs770077517 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1389C>T r.(=) p.(=) g.17118542G>A - FLCN_000052 rs137852929 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1432+41G>A r.(=) p.(=) g.17118458C>T - FLCN_000042 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1432+46C>T r.(=) p.(=) g.17118453G>A - FLCN_000030 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1538+8A>G r.(=) p.(=) g.17118291T>C - FLCN_000032 - - Germline - - - - Despoina Kalfakakou
-/- 3 - c.1538+14T>G r.(=) p.(=) g.17118285A>C - FLCN_000016 rs112111994 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1538+35C>T r.(=) p.(=) g.17118264G>A - FLCN_000047 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1539-49C>T r.(=) p.(=) g.17117219G>A - FLCN_000036 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1539-27_1539-26insT r.(=) p.(=) g.17117196_17117197insA - FLCN_000048 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1668C>T r.(=) p.(=) g.17117041G>A - FLCN_000053 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.1692C>T r.(=) p.(=) g.17117017G>A - FLCN_000038 rs201810397 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1724C>T r.(?) p.(Ser575Leu) g.17116985G>A - FLCN_000031 - - Germline - - - - Despoina Kalfakakou
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