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SERPINA1

Synonyms
A1A, A1AT, AAT, PI, PI1, PRO2275, alpha1AT, nNIF
External resources
Summary
The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found 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
8
Likely pathogenic
48
VUS
890
Likely benign
42
Benign
204

Patient Phenotypes

Proportions of phenotypes among 56 patients carrying pathogenic or likely pathogenic variants on SERPINA1 gene are displayed below. The following symptoms were found in patients with a variant in SERPINA1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.2%
Abnormality of the musculoskeletal system
32.1%
Abnormality of head or neck
19.6%
Abnormality of the eye
17.9%
Abnormality of the cardiovascular system
16.1%
Abnormality of the ear
14.3%
Growth abnormality
14.3%
Abnormality of the digestive system
12.5%
Abnormality of the genitourinary system
10.7%
Abnormality of blood and blood forming tissues
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the respiratory system
7.1%
Abnormality of limbs
5.4%
Abnormality of the immune system
5.4%
Abnormality of the integument
5.4%
Neoplasm
5.4%
Abnormal cellular phenotype
1.8%
Abnormality of metabolism homeostasis
1.8%
Constitutional symptom
1.8%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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