JAG1

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 JAG1 gene was identified in a female, age 36 with rapid, unexplained bilateral vocal cord spasms and muscle weakness (read full description).

Date of Report

Aug 19, 2021

Full Name

jagged canonical Notch ligand 1

Location

Chromosome 20 (20p12.2)

Function

The JAG1 gene encodes for a protein that is involved in the activation of Notch signaling and the differentiation of cardiomyocytes (Li et al., 2006).

Database Links

GeneCards: JAG1

MedlinePlus Genetics: JAG1

NCBI Gene: 182

OMIM: 601920

UniProtKB/Swiss-Prot: P78504

Clinical Significance

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

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
JAG1	Unknown	chr20:g.10626003C>A	NM_000214.2	c.2113+1G>T	N/A

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