SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1292772
Disease:
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.020 GeneticVariation BEFREE In the patient diagnosed with aCML in bone marrow study, two CSF3R mutations, (T618I and Y779*) a SETBP1 mutation (G870S) and an U2AF1 mutation (Q157P), were identified by high-coverage next-generation sequencing. 31692115 2020
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1292772
Disease:
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.020 GeneticVariation BEFREE We performed exome sequencing of eight aCMLs and identified somatic alterations of SETBP1 (encoding a p.Gly870Ser alteration) in two cases. 23222956 2013