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FLASH GENE
Symbol SF3B1 contributors: mct - updated : 06-11-2015
HGNC name splicing factor 3b, subunit 1, 155kDa
HGNC id 10768
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral germinal mutation      
in myelodysplasia, with increased ring sideroblasts, that is, refractory anaemia with ring sideroblasts (RARS) and refractory cytopenia with multilineage dysplasia
tumoral somatic mutation      
probably occur during chronic lymphocytic leukemia development
tumoral somatic mutation      
are prevalent in low-risk myelodysplastic syndromes with ring sideroblasts
tumoral somatic mutation      
in chronic lymphocytic leukemia
tumoral somatic mutation      
in patients with myelodysplastic syndrome, with myelodysplastic/myeloproliferative neoplasms and with AML
constitutional somatic mutation      
more than 90% of the patients with Refractory anemia with ring sideroblasts (RARS) carry somatic mutations in SF3B1
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS