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KIAA1549

Synonyms
RP86
External resources
Summary
The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
25
Likely pathogenic
0
VUS
15,678
Likely benign
7,280
Benign
1

Patient phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on KIAA1549 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.6%
Abnormality of the eye
38.1%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
19%
Abnormality of the ear
19%
Abnormality of the integument
14.3%
Abnormality of the digestive system
9.5%
Abnormality of the genitourinary system
9.5%
Growth abnormality
9.5%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of limbs
4.8%
Abnormality of the cardiovascular system
4.8%
Abnormality of the respiratory system
4.8%
Constitutional symptom
4.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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