BSN

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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Compound heterozygous changes in the BSN gene were identified in a UDN participant with global developmental delay, eye and vision abnormalities, and gastrointestinal dysmotility.

Date of Report

Jun 10, 2025

Full Name

Bassoon Presynaptic Cytomatrix Protein

Location

Chromosome 3 (3p21.31)

Function

This gene encodes for a scaffolding protein that plays a role in organizing the presynaptic cytoskeleton [provided by RefSeq, Jul 2008].

Database Links

GeneCards: BSN

NCBI Gene: 8927

OMIM: 604020

UniProtKB/Swiss-Prot: Q9UPA5

Clinical Significance

Compound heterozygous changes in this gene were identified in a UDN participant.

Gene BSN

Inheritance Pattern Unknown

Position (hg19) chr3:g.49662482C>T; chr3:g.49698316C>T

Transcript NM_003458.4

DNA Change c.299C>T; c.9038C>T

Protein Change p.Ser100Phe; p.Ser3013Leu

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