All transcript variants in gene FLCN

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

190 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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     
+/+ - c.(?) r.(?) p.(?) g.(?_17117107)_(17117107_17118313)del - FLCN_000061 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - FLCN exon 14 deletion - - Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) g.(?_17117107)_(17117107_17118313)del - FLCN_000061 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - FLCN exon 14 deletion - - Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) g.(?_17117107)_(17117107_17118313)del - FLCN_000061 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - FLCN exon 14 deletion - - Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) g.(?_17117107)_(17117107_17118313)del - FLCN_000061 - Deletion extending 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - FLCN exon 14 deletion - - Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) g.(?_17117107)_(17117107_17118313)del - FLCN_000061 - Deletion extending 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - FLCN exon 14 deletion - - Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) g.(?_17117107)_(17117107_17118313)del - FLCN_000061 - Deletion extending 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - FLCN exon 14 deletion - - Despoina Kalfakakou
?/? - c.13G>A r.(?) p.(Val5Met) g.17131439C>T - FLCN_000040 - - Germline - - - - Despoina Kalfakakou
?/? - c.236C>T r.(?) p.(Ser79Leu) g.17131216G>A - FLCN_000043 rs137852930 - Germline - - - - Despoina Kalfakakou
?/? - c.250-51_250-48del r.(=) p.(=) g.17129684_17129687del - FLCN_000017 - - Germline - - - - Despoina Kalfakakou
?/? - c.250-51_250-48del r.(=) p.(=) g.17129684_17129687del - FLCN_000017 - - Germline - - - - Despoina Kalfakakou
?/? - c.250-46G>T r.(=) p.(=) g.17129682C>A - FLCN_000004 - - Germline - - - - Despoina Kalfakakou
?/? - c.250-46G>T r.(=) p.(=) g.17129682C>A - FLCN_000004 - - Germline - - - - Despoina Kalfakakou
?/? - c.250-46G>T r.(=) p.(=) g.17129682C>A - FLCN_000004 - - Germline - - - - Despoina Kalfakakou
?/? - c.250-33A>G r.(=) p.(=) g.17129669T>C - FLCN_000045 - - Germline - - - - Despoina Kalfakakou
?/? - c.265G>C r.(?) p.(Ala89Pro) g.17129621C>G - FLCN_000055 - - Germline - - - - Despoina Kalfakakou
?/? - c.396+18A>G r.(=) p.(=) g.17129472T>C - FLCN_000037 - - Germline - - - - Despoina Kalfakakou
?/? - c.397-52T>G r.(=) p.(=) g.17127509A>C - FLCN_000025 - - Germline - - - - Despoina Kalfakakou
?/? - c.397-49G>A r.(=) p.(=) g.17127506C>T - FLCN_000015 - - Germline - - - - Despoina Kalfakakou
?/? - c.399C>T r.(=) p.(=) g.17127455G>A - FLCN_000028 - - Germline - - - - Despoina Kalfakakou
?/? - c.402C>T r.(=) p.(=) g.17127452G>A - FLCN_000014 - - Germline - - - - Despoina Kalfakakou
?/? - c.404C>T r.(?) p.(Pro135Leu) g.17127450G>A - FLCN_000013 - - Germline - - - - Despoina Kalfakakou
+/+ - c.420del r.(?) p.(Ile141Serfs*36) g.17127434del - FLCN_000046 - - Germline - - - - Despoina Kalfakakou
+/+ - c.420del r.(?) p.(Ile141Serfs*36) g.17127434del - FLCN_000046 - - Germline - - - - Despoina Kalfakakou
+/+ - c.469_471del r.(?) p.(Phe157del) g.17127383_17127385del - FLCN_000059 rs786203218 - Germline ? - - - Despoina Kalfakakou
?/? - c.567G>A r.(=) p.(=) g.17127287C>T - FLCN_000033 - - Germline - - - - Despoina Kalfakakou
?/? - c.618+22C>T r.(=) p.(=) g.17127214G>A - FLCN_000027 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.619-20C>T r.(=) p.(=) g.17125995G>A - FLCN_000049 rs202217257 - Germline - - - - Despoina Kalfakakou
-?/-? - c.687C>T r.(=) p.(=) g.17125907G>A - FLCN_000035  rs754710935 - Germline - - - - Despoina Kalfakakou
-?/-? - c.708C>T r.(=) p.(=) g.17125886G>A - FLCN_000034 rs750394475 - Germline - - - - Despoina Kalfakakou
-?/-? - c.708C>T r.(=) p.(=) g.17125886G>A - FLCN_000034 rs750394475 - Germline - - - - Despoina Kalfakakou
-?/-? - c.708C>T r.(=) p.(=) g.17125886G>A - FLCN_000034 rs750394475 - Germline - - - - Despoina Kalfakakou
-?/-? - c.715C>T r.(?) p.(Arg239Cys) g.17125879G>A - FLCN_000023 rs78683075 - Germline - - - - Despoina Kalfakakou
-?/-? - c.715C>T r.(?) p.(Arg239Cys) g.17125879G>A - FLCN_000023 rs78683075 - Germline - - - - Despoina Kalfakakou
-?/-? - c.715C>T r.(?) p.(Arg239Cys) g.17125879G>A - FLCN_000023 rs78683075 - Germline - - - - Despoina Kalfakakou
?/? - c.779+46_779+47del r.(=) p.(=) g.17125768_17125769del - FLCN_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.779+46_779+47del r.(=) p.(=) g.17125768_17125769del - FLCN_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.779+46_779+47del r.(=) p.(=) g.17125768_17125769del - FLCN_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.779+46_779+47del r.(=) p.(=) g.17125768_17125769del - FLCN_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.779+46_779+47del r.(=) p.(=) g.17125768_17125769del - FLCN_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.779+50G>T r.(=) p.(=) g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou
?/? - c.780-14G>A r.(=) p.(=) g.17124956C>T - FLCN_000058 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.780-6C>T r.(=) p.(=) g.17124948G>A - FLCN_000029 rs752746072 - Germline - - - - Despoina Kalfakakou
-?/-? - c.789G>A r.(=) p.(=) g.17124933C>T - FLCN_000002 rs1483962771 - Germline - - - - Despoina Kalfakakou
-?/-? - c.792G>T r.(=) p.(=) g.17124930C>A - FLCN_000050 rs140500421 - Germline - - - - Despoina Kalfakakou
?/? - c.838G>A r.(?) p.(Glu280Lys) g.17124884C>T - FLCN_000056 rs1060502367 - Germline - - - - Despoina Kalfakakou
?/? - c.838G>A r.(?) p.(Glu280Lys) g.17124884C>T - FLCN_000056 rs1060502367 - Germline - - - - Despoina Kalfakakou
+/+ - c.871+47G>A r.(=) p.(=) g.17124804C>T - FLCN_000012 rs142934950 - Germline - - - - Despoina Kalfakakou
+/+ - c.871+47G>A r.(=) p.(=) g.17124804C>T - FLCN_000012 rs142934950 - Germline - - - - Despoina Kalfakakou
+/+ - c.871+47G>A r.(=) p.(=) g.17124804C>T - FLCN_000012 rs142934950 - Germline - - - - Despoina Kalfakakou
+/+ - c.871+47G>A r.(=) p.(=) g.17124804C>T - FLCN_000012 rs142934950 - Germline - - - - Despoina Kalfakakou
+/+ - c.871+47G>A r.(=) p.(=) g.17124804C>T - FLCN_000012 rs142934950 - Germline - - - - Despoina Kalfakakou
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