PTPRC

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

Protein-Tyrosine Phosphatase, Receptor-Type C

Location

Chromosome 1 (1q31.3-q32.1)

Function

Encodes T200 glycoprotein, a leukocyte cell surface molecule, that is integral to membrane protein tyrosine phosphatase (Charbonneau et al., 1988).

Database Links

GeneCards: PTPRC

NCBI Gene: 5788

OMIM: 151460

UniProtKB/Swiss-Prot: P08575

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 PTPRC

Inheritance Pattern Autosomal Recessive

Position (hg19) chr1:g.198668827A>G

Transcript NM_002838.4

DNA Change c.433A>G

Protein Change p.Ile145Val

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