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FRAS1

Synonyms
FRASRS1
External resources
Summary
This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. 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
57
Likely pathogenic
0
VUS
23,377
Likely benign
10,275
Benign
3,048

Patient phenotypes

Proportions of phenotypes among 56 patients carrying pathogenic or likely pathogenic variants on FRAS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
41.1%
Abnormality of head or neck
35.7%
Abnormality of the eye
28.6%
Abnormality of the integument
21.4%
Abnormality of the ear
17.9%
Abnormality of limbs
16.1%
Growth abnormality
16.1%
Abnormality of the cardiovascular system
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the digestive system
8.9%
Abnormality of the respiratory system
8.9%
Abnormality of the breast
3.6%
Neoplasm
3.6%
Abnormality of blood and blood-forming tissues
1.8%
Abnormality of prenatal development or birth
1.8%
Abnormality of the immune system
1.8%
Abnormality of the voice
1.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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