ARFGEF1 - Gene browser

ARFGEF1

ADP ribosylation factor guanine nucleotide exchange factor 1

HCNC Approved Symbol: ARFGEF1 (HGNC:15772)
Genomic Coordinates: 8:67,173,511 - 67,343,781 (8q13.2)
Synonyms: DKFZP434L057, BIG1, ARFGEP1, p200
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the ARFGEF1 gene.

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

04
Patient count

Intellectual disability: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Epilepsy: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Abnormality of the dentition: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Craniosynostosis: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Highly arched eyebrow: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)