NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: T-Cell Lymphoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1442744764
rs1442744764
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0079772
Disease:
T-Cell Lymphoma 		0.010 GeneticVariation BEFREE We detected a nonsense mutation, C7249T (resulting in Q2417X, where X is a termination codon) in the PEST domain of NOTCH1 in an ATL patient and detected a 3-bp deletion (positions 7234-7236) that resulted in deletion of a proline codon at codon 2412 in the PEST domain of NOTCH1 in a patient with a T-NHL, peripheral T-cell lymphoma-unspecified (PTCL-u). 17483057 2007