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CCDC174

Synonyms
C3orf19, HSPC212, IHPM, IHPMR, ctr1
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
7
Likely pathogenic
0
VUS
977
Likely benign
441
Benign
14

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on CCDC174 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
42.9%
Abnormality of head or neck
28.6%
Abnormality of the nervous system
28.6%
Abnormality of the digestive system
14.3%
Abnormality of the eye
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the immune system
14.3%
Abnormality of the integument
14.3%
Abnormality of the musculoskeletal system
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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