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AFM

Synonyms
ALB2, ALBA, ALF
External resources
Summary
This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream.

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
91
Likely pathogenic
0
VUS
5,127
Likely benign
2,055
Benign
0

Patient phenotypes

Proportions of phenotypes among 91 patients carring pathogenic or likely pathogenic variants on AFM gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
54.9%
Abnormality of the musculoskeletal system
38.5%
Abnormality of head or neck
27.5%
Abnormality of the cardiovascular system
24.2%
Growth abnormality
18.7%
Abnormality of the eye
17.6%
Abnormality of the integument
15.4%
Abnormality of limbs
12.1%
Abnormality of the ear
11%
Abnormality of the genitourinary system
11%
Abnormality of the digestive system
9.9%
Abnormality of the immune system
6.6%
Abnormality of blood and blood-forming tissues
5.5%
Abnormality of the respiratory system
5.5%
Abnormality of prenatal development or birth
2.2%
Abnormality of the endocrine system
2.2%
Neoplasm
1.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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