CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: Fibromatosis, Aggressive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1171472831
rs1171472831
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0079218
Disease:
Fibromatosis, Aggressive 		0.010 GeneticVariation BEFREE Three patients showed a CTNNB1 hotspot mutation (T41A, S45F, or S45N) in both the desmoid-type fibromatosis and the radiation-induced sarcoma. 26414222 2015