RAG1

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 UDN participant with a weakened immune system, mitochondrial deficiency, delayed stomach emptying, and multiple congenital anomalies. Research is underway to see if this change is causing symptoms in this participant (read full description).

Date of Report

Apr 12, 2022

Full Name

Recombination-Activating Gene 1

Location

Chromosome 11 (11p12)

Function

The RAG1 gene activates the V(D)J recombination in the presence of NIH 3T3 fibroblast (Schatz et al., 1989).

Database Links

GeneCards: RAG1

MedlinePlus Genetics: RAG1

NCBI Gene: 5896

OMIM: 179615

UniProtKB/Swiss-Prot: P15918

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene RAG1

Inheritance Pattern Autosomal Recessive

Position (hg19) chr11:g.36596970del

Transcript NM_000448.2

DNA Change c.2116delA

Protein Change p.Arg706GlyfsTer44

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