SPTB - Gene browser

SPTB

spectrin beta, erythrocytic

HCNC Approved Symbol: SPTB (HGNC:11274)
Genomic Coordinates: 14:64,746,283 - 64,879,907 (14q23.3)
Synonyms
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

16Patients

In total, 16 patients were diagnosed with a variant in the SPTB gene.

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

016
Patient count

Splenomegaly: 8 (50.0%)
Patient Count: 8 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
8 (50.0%)
Hemolytic anemia: 7 (43.8%)
Patient Count: 7 (43.8%)
% of total patients presenting each phenotype is shown in parentheses.
7 (43.8%)
Jaundice: 5 (31.3%)
Patient Count: 5 (31.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (31.3%)
Spherocytosis: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)
Anemia: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)