MRPS12

On this page, you will find information about a genetic change that was identified in a UDN participant.

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A change in the MRPS12 gene was identified in a female, age 5, with seizures (status epilepticus), developmental regression, and eye abnormalities (strabismus, esotropia) (read full description).

Date of Report

Mar 04, 2020

Full Name

mitochondrial ribosomal protein s12

Location

Chromosome 19 (19q13.2)

Function

The MRPS12 gene encodes ribosomal protein s12, which is a core component of the mitochondrial ribosome (Johnson et al., 1998).

Database Links

GeneCards: MRPS12

NCBI Gene: 6183

OMIM: 603021

UniProtKB/Swiss-Prot: O15235

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 MRPS12

Inheritance Pattern Unknown

Position (hg19) chr19:g.39423147C>T

Transcript NM_021107.1

DNA Change c.224C>T

Protein Change p.Ser75Leu

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