RPA1

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 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

Location

Chromosome 17 (17p13.3)

Function

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

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