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FOLR3

Synonyms
FR-G, FR-gamma, FRgamma, gamma-hFR
External resources
Summary
This gene encodes a member of the folate receptor (FOLR) family of proteins, which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Expression of this gene may be elevated in ovarian and primary peritoneal carcinoma. This gene is present in a gene cluster on chromosome 11. 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
25
Likely pathogenic
57
VUS
851
Likely benign
1,041
Benign
0

Patient phenotypes

Proportions of phenotypes among 82 patients carring pathogenic or likely pathogenic variants on FOLR3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
59.8%
Abnormality of the nervous system
30.5%
Abnormality of the musculoskeletal system
22%
Abnormality of head or neck
9.8%
Growth abnormality
9.8%
Abnormality of the integument
7.3%
Abnormality of the ear
6.1%
Abnormality of the genitourinary system
6.1%
Abnormality of limbs
4.9%
Abnormality of the endocrine system
3.7%
Abnormality of the immune system
3.7%
Neoplasm
2.4%
Abnormal cellular phenotype
1.2%
Abnormality of the cardiovascular system
1.2%
Abnormality of the digestive system
1.2%
Constitutional symptom
1.2%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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