Unique variants in gene CYLD

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

42 entries on 1 page. Showing entries 1 - 42.
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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     
-/- 1 - c.59T>G r.(?) p.(Ile20Ser) g.50783668T>G - CYLD_000026 rs764097337 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.277A>G r.(?) p.(Asn93Asp) g.50783886A>G - CYLD_000023 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.501G>A r.(=) p.(=) g.50784110G>A - CYLD_000018 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.504+29_504+32del r.(=) p.(=) g.50784142_50784145del - CYLD_000005 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.504+31T>A r.(=) p.(=) g.50784144T>A - CYLD_000035 - - Germline - - - - Despoina Kalfakakou
?/? 5 - c.504+46G>A r.(=) p.(=) g.50784159G>A - CYLD_000012 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.505-32T>A r.(=) p.(=) g.50785483T>A - CYLD_000011 - - Germline - - - - Despoina Kalfakakou
./., ?/? 2 - c.538G>T r.(?) p.(Val180Leu) g.50785548G>T - CYLD_000022 rs370450747 - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 1 - c.633A>G r.(=) p.(=) g.50785643A>G - CYLD_000030 rs1287618328 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.913+7T>C r.(=) p.(=) g.50788342T>C - CYLD_000028 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.914-997T>C r.(=) p.(=) g.50809093T>C - CYLD_000029 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.914-989G>A r.(=) p.(=) g.50809101G>A - CYLD_000010 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.924G>T r.(=) p.(=) g.50810100G>T - CYLD_000006 rs745643144 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1094A>G r.(?) p.(Gln365Arg) g.50811817A>G - CYLD_000034 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1130-31T>G r.(=) p.(=) g.50813545T>G - CYLD_000015 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1130-28A>G r.(=) p.(=) g.50813548A>G - CYLD_000032 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1180C>T r.(?) p.(Arg394Cys) g.50813626C>T - CYLD_000037 rs149427272 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1473A>G r.(=) p.(=) g.50813919A>G - CYLD_000019 rs369789110 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1509+42G>T r.(=) p.(=) g.50813997G>T - CYLD_000024 rs17222902 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1533G>A r.(=) p.(=) g.50815180G>A - CYLD_000033 rs767562333 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1675+14T>C r.(=) p.(=) g.50815336T>C - CYLD_000027 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1676-17T>A r.(=) p.(=) g.50816219T>A - CYLD_000016 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1676-11A>C r.(=) p.(=) g.50816225A>C - CYLD_000025 - - Germline - - - - Despoina Kalfakakou
./. 1 - c.1677A>G r.(=) p.(=) g.50816237A>G - CYLD_000043 - - - - - - - Stevi Xera
?/? 1 - c.1902A>G r.(=) p.(=) g.50818324A>G - CYLD_000042 rs748879155 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1941-36A>G r.(=) p.(=) g.50820730A>G - CYLD_000040 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2032+23G>A r.(=) p.(=) g.50820880G>A - CYLD_000039 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2099+27T>C r.(=) p.(=) g.50821790T>C - CYLD_000004 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2099+51T>C r.(=) p.(=) g.50821814T>C - CYLD_000041 - - Germline - - - - Despoina Kalfakakou
?/? 11 - c.2100-29T>C r.(=) p.(=) g.50825440T>C - CYLD_000001 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2238A>G r.(=) p.(=) g.50826513A>G - CYLD_000031 rs765115793 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2275G>T r.(?) p.(Asp759Tyr) g.50826550G>T - CYLD_000002 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2341+50C>A r.(=) p.(=) g.50826666C>A - CYLD_000007 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2342-40T>A r.(=) p.(=) g.50827417T>A - CYLD_000008 - - Germline - - - - Despoina Kalfakakou
?/? 6 - c.2460+37G>T r.(=) p.(=) g.50827612G>T - CYLD_000017 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2461-51C>T r.(=) p.(=) g.50828072C>T - CYLD_000020 - - Germline - - - - Despoina Kalfakakou
?/? 29 - c.2461-35C>T r.(=) p.(=) g.50828088C>T - CYLD_000003 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2678-39C>A r.(=) p.(=) g.50830196C>A - CYLD_000013 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2709C>T r.(=) p.(=) g.50830266C>T - CYLD_000009 rs1163356265 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2859A>G r.(=) p.(=) g.50830416A>G - CYLD_000021 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.*47G>A r.(=) p.(=) g.50830466G>A - CYLD_000014 rs116979331 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*52A>G r.(=) p.(=) g.50830471A>G - CYLD_000038 - - Germline - - - - Despoina Kalfakakou
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