On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a male, age 8 with feeding issues, delayed bone age, chronic ear infections, & sleep apnea (Floating Harbor syndrome) (read full description).

Date of Report

Dec 22, 2016

Full Name

Snf2 related CREBBP activator protein

Chromosome 16 (16p11.2)


The SRCAP gene codes for a protein that helps to activate a gene called CREBBP. The protein produced from the CREBBP gene plays a role in regulating cell growth and division (MedlinePlus Genetics).

Database Links

GeneCards: SRCAP

MedlinePlus Genetics: SRCAP

NCBI Gene: 10847

OMIM: 611421

UniProtKB/Swiss-Prot: Q6ZRS2

Clinical Significance

Changes in this gene have been found in individuals with Floating Harbor syndrome.

A change in this gene was also identified in a UDN participant with features of this condition.

Inheritance Pattern Autosomal dominant
Position (hg19) chr16:g.30748664C>T
Transcript NM_006662.2
DNA Change c.7303C>T
Protein Change p.Arg2435Ter
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