CFTR

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.

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A change in the CFTR gene was identified in a UDN participant with autism, delayed speech and development, gap between larynx and esophagus (laryngeal cleft), and low muscle tone (hypotonia)

Date of Report

Dec 01, 2023

Full Name

CF Transmembrane Conductance Regulator

Location

Chromosome 7q31.2

Function

Cystic fibrosis transmembrane conductance regulator acts as a chloride channel and is responsible for the transport of water and ions in epithelial tissues, as well as fluid homeostasis (Shah et al., 2016).

Database Links

GeneCards: CFTR

MedlinePlus Genetics: CFTR

NCBI Gene: 1080

OMIM: 602421

UniProtKB/Swiss-Prot: P13569

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant.

Gene CFTR

Inheritance Pattern Unknown

Position (hg19) chr7: g.117199646_ 117199648del

Transcript NM_000492.3

DNA Change c.1521_1523del

Protein Change p.Phe508del

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