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SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

HCNC Approved Symbol
SOS1 (HGNC:11187)
Genomic Coordinates
2:38,981,549 - 39,124,868 (2p22.1)
Synonyms
HGF, GF1, GINGF
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

22Patients

In total, 22 patients were diagnosed with a variant in the SOS1 gene.

Frequently observed phenotypes

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

Pulmonary stenosis
 5 (22.7%)
Global developmental delay
 4 (18.2%)
Intellectual disability
 4 (18.2%)
Developmental delay
 4 (18.2%)
Hypertelorism
 
3 (13.6%)
SOS1 - Gene browser | 3billion