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SRP54

signal recognition particle 54

HCNC Approved Symbol
SRP54 (HGNC:11301)
Genomic Coordinates
14:34,982,992 - 35,029,567 (14q13.2)
Synonyms
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the SRP54 gene.

Frequently observed phenotypes

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

Aplastic anemia
 1 (50.0%)
Anemia
 1 (50.0%)
Neutropenia
 1 (50.0%)
Short stature
 1 (50.0%)
SRP54 - Gene browser | 3billion