SRCAP - Gene browser

SRCAP

Snf2 related CREBBP activator protein

HCNC Approved Symbol: SRCAP (HGNC:16974)
Genomic Coordinates: 16:30,699,171 - 30,741,409 (16p11.2)
Synonyms: KIAA0309, SWR1, DOMO1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the SRCAP gene.

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

012
Patient count

Short stature: 8 (66.7%)
Patient Count: 8 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
8 (66.7%)
Developmental delay: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Long eyelashes: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Hypertension: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Dysmorphism: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)