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)
JAG1-gene.png

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: GC20M010637

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