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SRSF1

serine and arginine rich splicing factor 1

HCNC Approved Symbol
SRSF1 (HGNC:10780)
Genomic Coordinates
17:57,989,038 - 58,007,246 (17q22)
Synonyms
ASF, SF2, SRp30a, SF2p33, MGC5228, SFRS1
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 SRSF1 gene.

Frequently observed phenotypes

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

Facial dysmorphism
 1 (100.0%)
Global developmental delay
 1 (100.0%)
Ptosis
 1 (100.0%)
Strabismus
 1 (100.0%)
SRSF1 - Gene browser | 3billion