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 the RPA1 gene was identified in a female, age 1 with low T-cell lymphocyte levels (T-cell lymphopenia) and immune system abnormalities (decreased IgG level in blood) (read full description).

Date of Report

Dec 19, 2019

Full Name

replication protein A1

Chromosome 17 (17p13.3)


Replication protein A (RPA) is important for DNA replication, repair, and recombination. It is composed of three subunits termed RPA1, RPA2, and RPA3. The RPA1 subunit is responsible for high affinity single strand DNA binding (Haring et al., 2008).

Database Links

GeneCards: RPA1

NCBI Gene: 6117

OMIM: 179835

UniProtKB/Swiss-Prot: P27694

Clinical Significance

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

Gene RPA1
Inheritance Pattern Autosomal dominant
Position (hg19) chr17:g.1782557A>G
Transcript NM_002945.3
DNA Change c.808A>G
Protein Change p.Thr270Ala
Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!