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.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Date of Report

Feb 15, 2018

Full Name

interferon induced with helicase C domain 1

Chromosome 2 (2q24.2)


The IFIH1 gene provides instructions for making a protein involved in the body’s immune response (Genetics Home Reference).

Database Links

Genetics Home Reference: IFIH1 gene

GeneCards: GC02M162267

NCBI Gene: 64135

OMIM: 606951

UniProtKB/Swiss-Prot: Q9BYX4

Clinical Significance

Changes in the IFIH1 gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this patient.

Gene IFIH1
Inheritance Pattern Unknown
Position Chr2: 163144674; Chr2: 163134090
Transcript NM_022168
DNA Change c.1066C>A; c.1879G>T
Protein Change p.P356T; p.E627X
Contact Us

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