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

52 entries on 1 page. Showing entries 1 - 52.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.87C>T r.(?) p.(Ser29=)
?/. - c.382G>A r.(?) p.(Gly128Ser)
?/. - c.402G>C r.(?) p.(Gln134His)
+/. - c.454_455del r.(?) p.(Leu152ValfsTer14)
-/. - c.504+9G>T r.(=) p.(=)
+/. - c.686del r.(?) p.(Pro229LeufsTer4)
-?/. - c.888A>G r.(?) p.(Leu296=)
+/. - c.919del r.(?) p.(Val307Ter)
?/. - c.997A>G r.(?) p.(Lys333Glu)
+/. - c.1103C>A r.(?) p.(Ser368Ter)
-?/. - c.1283G>A r.(?) p.(Gly428Glu)
+/. - c.1437_1438del r.(?) p.(Pro480PhefsTer16)
+/. - c.1446T>A r.(?) p.(Tyr482Ter)
-/. - c.1464C>T r.(?) p.(Ile488=)
-/. - c.1509+35del r.(=) p.(=)
+/. - c.1510-2A>T r.spl? p.?
+/. - c.1548_1549dup r.(?) p.(Gly517GlufsTer10)
?/. - c.1628C>T r.(?) p.(Ala543Val)
+/. - c.1672_1673del r.(?) p.(Leu558SerfsTer8)
+/. - c.1673T>A r.(?) p.(Leu558Ter)
-/. - c.1817+75_1817+76dup r.(=) p.(=)
?/. - c.1940+5G>A r.spl? p.?
+/. - c.2033-1G>C r.spl? p.?
+/. - c.2056_2057del r.(?) p.(Leu686ValfsTer34)
+/. - c.2060_2061delinsC r.(?) p.(Phe687SerfsTer5)
+/. - c.2099+1G>A r.spl? p.?
?/. - c.2137C>A r.(?) p.(Gln713Lys)
?/. - c.2139A>G r.(?) p.(Gln713=)
+/. - c.2198G>A r.(?) p.(Trp733Ter)
?/. - c.2232G>C r.(?) p.(Glu744Asp)
?/. - c.2232+5G>T r.spl? p.?
+/. - c.2263C>T r.(?) p.(Arg755Ter)
+/. - c.2296del r.(?) p.(Ile766PhefsTer7)
+/. - c.2303del r.(?) p.(Pro768LeufsTer5)
?/. - c.2341+5G>A r.spl? p.?
+/. - c.2342-1G>A r.spl? p.?
?/. - c.2354G>A r.(?) p.(Cys785Tyr)
+/. - c.2384del r.(?) p.(Glu795GlyfsTer34)
-/. - c.2403C>T r.(?) p.(Asp801=)
-?/. - c.2408C>T r.(?) p.(Pro803Leu)
?/. - c.2474C>T r.(?) p.(Pro825Leu)
+/. - c.2532G>A r.(?) p.(Trp844Ter)
+/. - c.2560C>T r.(?) p.(Gln854Ter)
+/. - c.2593G>T r.(?) p.(Glu865Ter)
+/. - c.2614_2618del r.(?) p.(Phe872GlufsTer13)
+/. - c.2646G>A r.(?) p.(Trp882Ter)
+/. - c.2653_2655del r.(?) p.(Phe885del)
-?/. - c.2677+11C>T r.(=) p.(=)
+/. - c.2797C>T r.(?) p.(Arg933Ter)
-?/. - c.2805G>A r.(?) p.(Leu935=)
?/. - c.2830T>C r.(?) p.(Tyr944His)
-/. - c.*837A>G r.(=) p.(=)
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