3billion
back to listBack to List

SF3B1

splicing factor 3b subunit 1

HCNC Approved Symbol
SF3B1 (HGNC:10768)
Genomic Coordinates
2:197,389,784 - 197,435,093 (2q33.1)
Synonyms
SAP155, SF3b155, PRPF10, Prp10, Hsh155
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the SF3B1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Anemia
 1 (100.0%)
Benign prostatic hyperplasia
 1 (100.0%)
Cardiomyopathy
 1 (100.0%)
Thrombocytopenia
 1 (100.0%)
SF3B1 - Gene browser | 3billion