TRIP11

On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.

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Changes in the TRIP11 gene were identified in a female, age 3 with a skeletal disorder (read full description).

Date of Report

Feb 15, 2019

Full Name

Thyroid Hormone Receptor Interactor 11

Location

Chromosome 14 (14q32.12)

Function

The TRIP11 gene provides instructions for making a protein known as Golgi microtubule-associated protein 210 (GMAP-210), which is believed to be important in the developing skeleton (MedlinePlus Genetics).

Database Links

GeneCards: GC14M091965

MedlinePlus Genetics: TRIP11

NCBI Gene: 9321

OMIM: 604505

UniprotKB/Swiss-Prot: Q15643

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene TRIP11

Inheritance Pattern Autosomal recessive

Position (hg19) Chr14:92472282 & Chr14:92469762

Transcript NM_004239

DNA Change c.2038G>T & c.4557+1G>T

Protein Change p.E680X & intronic

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