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FAM114A1

Synonyms
Noxp20
External resources
Summary
The protein encoded by this gene belongs to the FAM114 family and may play a role in neuronal cell development. Alternative splicing results in multiple transcript variants.

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
13
Likely pathogenic
0
VUS
4,459
Likely benign
1,829
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on FAM114A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.8%
Abnormality of the eye
38.5%
Abnormality of the musculoskeletal system
38.5%
Abnormality of head or neck
30.8%
Growth abnormality
30.8%
Abnormality of blood and blood-forming tissues
23.1%
Abnormality of the ear
23.1%
Abnormality of limbs
15.4%
Abnormality of prenatal development or birth
15.4%
Abnormality of the genitourinary system
15.4%
Abnormality of the integument
15.4%
Abnormality of the cardiovascular system
7.7%
Abnormality of the endocrine system
7.7%
Abnormality of the immune system
7.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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