WRNIP1

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 this gene was identified in a male, age 10, with global developmental delay, low muscle tone, and feeding difficulties (read full description).

Date of Report

Mar 18, 2026

Full Name

WRN helicase interacting protein 1

Location

6p25.2

Function

The WRNIP1 gene codes for an enzyme that binds to the gene product of WRN and is thought to be involved in the DNA replication process (Yoshimura et al. 2009).

Database Links

GeneCards: WRNIP1

NCBI Gene: 56897

OMIM: 608196

UniProtKB/Swiss-Prot: Q96S55

Clinical Significance

A de novo change in this gene was identified in a UDN participant.

Gene WRNIP1

Inheritance Pattern Unknown

Position (hg19) chr6:g.2785250:G>T

Transcript NM_020135.3

DNA Change c.1966G>T

Protein Change p.Gly656Trp

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