Transcript #00005987

Transcript name transcript variant 2
Gene name CYLD (cylindromatosis (turban tumor syndrome))
Chromosome 16
Transcript - NCBI ID NM_001042355.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001035814.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

51 entries on 1 page. Showing entries 1 - 51.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.87C>T benign r.(?) p.(=)
?/. - c.382G>A VUS r.(?) p.(Gly128Ser)
?/. - c.402G>C VUS r.(?) p.(Gln134His)
+/. - c.454_455del pathogenic r.(?) p.(Leu152Valfs*14)
-/. - c.504+9G>T benign r.(=) p.(=)
+/. - c.686del pathogenic r.(?) p.(Pro229Leufs*4)
-?/. - c.888A>G likely benign r.(?) p.(=)
+/. - c.919del pathogenic r.(?) p.(Val307*)
?/. - c.997A>G VUS r.(?) p.(Lys333Glu)
+/. - c.1103C>A pathogenic r.(?) p.(Ser368*)
-?/. - c.1283G>A likely benign r.(?) p.(Gly428Glu)
+/. - c.1437_1438del pathogenic r.(?) p.(Pro480Phefs*16)
+/. - c.1446T>A pathogenic r.(?) p.(Tyr482*)
-/. - c.1464C>T benign r.(?) p.(=)
-/. - c.1509+35del benign r.(=) p.(=)
+/. - c.1510-2A>T pathogenic r.spl? p.?
+/. - c.1548_1549dup pathogenic r.(?) p.(Gly517Glufs*10)
?/. - c.1628C>T VUS r.(?) p.(Ala543Val)
+/. - c.1672_1673del pathogenic r.(?) p.(Leu558Serfs*8)
+/. - c.1673T>A pathogenic r.(?) p.(Leu558*)
-/. - c.1817+75_1817+76dup benign r.(=) p.(=)
?/. - c.1940+5G>A VUS r.spl? p.?
+/. - c.2033-1G>C pathogenic r.spl? p.?
+/. - c.2056_2057del pathogenic r.(?) p.(Leu686Valfs*34)
+/. - c.2060_2061delinsC pathogenic r.(?) p.(Phe687Serfs*5)
+/. - c.2099+1G>A pathogenic r.spl? p.?
?/. - c.2137C>A VUS r.(?) p.(Gln713Lys)
?/. - c.2139A>G VUS r.(?) p.(=)
+/. - c.2198G>A pathogenic r.(?) p.(Trp733*)
?/. - c.2232G>C VUS r.(?) p.(Glu744Asp)
?/. - c.2232+5G>T VUS r.spl? p.?
+/. - c.2263C>T pathogenic r.(?) p.(Arg755*)
+/. - c.2296del pathogenic r.(?) p.(Ile766Phefs*7)
+/. - c.2303del pathogenic r.(?) p.(Pro768Leufs*5)
?/. - c.2341+5G>A VUS r.spl? p.?
+/. - c.2342-1G>A pathogenic r.spl? p.?
?/. - c.2354G>A VUS r.(?) p.(Cys785Tyr)
+/. - c.2384del pathogenic r.(?) p.(Glu795Glyfs*34)
-/. - c.2403C>T benign r.(?) p.(=)
-?/. - c.2408C>T likely benign r.(?) p.(Pro803Leu)
?/. - c.2474C>T VUS r.(?) p.(Pro825Leu)
+/. - c.2532G>A pathogenic r.(?) p.(Trp844*)
+/. - c.2560C>T pathogenic r.(?) p.(Gln854*)
+/. - c.2593G>T pathogenic r.(?) p.(Glu865*)
+/. - c.2614_2618del pathogenic r.(?) p.(Phe872Glufs*13)
+/. - c.2646G>A pathogenic r.(?) p.(Trp882*)
+/. - c.2653_2655del pathogenic r.(?) p.(Phe885del)
-?/. - c.2677+11C>T likely benign r.(=) p.(=)
+/. - c.2797C>T pathogenic r.(?) p.(Arg933*)
-?/. - c.2805G>A likely benign r.(?) p.(=)
?/. - c.2830T>C VUS r.(?) p.(Tyr944His)
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