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FRMPD3

Synonyms
-
External resources
Summary
This gene encodes a protein that contains a PDZ (post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1) domain at the N-terminus followed by a FERM domain. The encoded protein is involved in signal transduction. The PDZ domain is thought to function in protein-protein interactions, mainly by binding to specific C-terminal peptides of other proteins. The FERM domain is found in proteins that are localized to the plasma membrane and are associated with the cytoskeleton.

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
21
Likely pathogenic
0
VUS
2,183
Likely benign
2,065
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on FRMPD3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
53.3%
Abnormality of the musculoskeletal system
26.7%
Abnormality of the nervous system
26.7%
Abnormality of the integument
20%
Abnormality of head or neck
13.3%
Abnormality of prenatal development or birth
6.7%
Abnormality of the cardiovascular system
6.7%
Abnormality of the ear
6.7%
Abnormality of the genitourinary system
6.7%
Growth abnormality
6.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune 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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