Home > Gene Browser > PFN4

PFN4

Synonyms
-
External resources

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
1,434
Likely benign
514
Benign
0

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on PFN4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
100%
Abnormality of the nervous system
85.7%
Abnormality of head or neck
71.4%
Abnormality of limbs
57.1%
Abnormality of the eye
42.9%
Abnormality of the integument
42.9%
Growth abnormality
42.9%
Abnormality of the digestive system
28.6%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of the ear
14.3%
Abnormality of the endocrine system
14.3%
Abnormality of the genitourinary system
14.3%
Abnormal cellular phenotype
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 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%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes