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TUBGCP6

Synonyms
GCP-6, GCP6, MCCRP, MCCRP1, MCPHCR
External resources
Summary
The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome.

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
71
Likely pathogenic
2
VUS
8,206
Likely benign
12,822
Benign
1,786

Patient Phenotypes

Proportions of phenotypes among 73 patients carrying pathogenic or likely pathogenic variants on TUBGCP6 gene are displayed below. The following symptoms were found in patients with a variant in TUBGCP6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
56.2%
Abnormality of the musculoskeletal system
39.7%
Abnormality of head or neck
34.2%
Abnormality of the eye
31.5%
Abnormality of the cardiovascular system
26%
Growth abnormality
24.7%
Abnormality of the integument
23.3%
Abnormality of limbs
16.4%
Abnormality of the ear
16.4%
Abnormality of the digestive system
13.7%
Abnormality of the immune system
13.7%
Abnormality of metabolism homeostasis
12.3%
Abnormality of the genitourinary system
12.3%
Abnormality of the respiratory system
9.6%
Abnormality of the endocrine system
6.8%
Abnormality of blood and blood forming tissues
5.5%
Abnormal cellular phenotype
1.4%
Abnormality of the breast
1.4%
Constitutional symptom
1.4%
Neoplasm
1.4%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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