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CNTN6

Date of Report

Mar 18, 2024

Full Name

Contactin 6

Location
Chromosome 3 (3p26.3)
Participant-223-ideogram-e1711718932559.png

Function

This gene codes for proteins known as contactins, which help mediate cell surface interaction (Mercati et al., 2017).

Database Links

GeneCards: CNTN6 

MedlinePlus Genetics: N/A

NCBI Gene: 27255

OMIM: 607220

UniProtKB/Swiss-Prot: Q9UQ52

Clinical Significance

Heterozygous changes in this gene were identified in a UDN participant.

Gene CNTN6
Inheritance Pattern Autosomal recessive
Position (hg19) chr3: g.1337409C>A; chr3: g.1367543A>G
Transcript NM_014461.4
DNA Change c.579C>A; c.991A>G
Protein Change p.Asn193Lys; p.Ile331Val
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