CCDC174 Chromosome 3

Coiled-coil domain containing 174

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]

Associated Conditions (1)

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Key Variants

RS869025342

Pathogenic

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome, Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS869025342	Health Risk	Pathogenic	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome, Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome