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FGL1

Synonyms
HFREP1, HP-041, HPS, LFIRE-1, LFIRE1
External resources
Summary
Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene.

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
27
Likely pathogenic
332
VUS
3,919
Likely benign
1,070
Benign
0

Patient phenotypes

Proportions of phenotypes among 345 patients carring pathogenic or likely pathogenic variants on FGL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.5%
Abnormality of the musculoskeletal system
22.6%
Abnormality of head or neck
20.3%
Abnormality of the cardiovascular system
18.3%
Abnormality of the ear
15.9%
Abnormality of the eye
12.2%
Growth abnormality
10.4%
Abnormality of the genitourinary system
8.7%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the integument
5.5%
Abnormality of the digestive system
5.2%
Abnormality of limbs
4.3%
Abnormality of the respiratory system
3.5%
Abnormality of the immune system
2.9%
Neoplasm
2.3%
Abnormality of prenatal development or birth
2%
Abnormality of the endocrine system
2%
Abnormality of the breast
0.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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