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AMY1A

Synonyms
AMY1
External resources
Summary
Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein.

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
13
Likely pathogenic
0
VUS
158
Likely benign
32
Benign
0

Patient Phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on AMY1A gene are displayed below. The following symptoms were found in patients with a variant in AMY1A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
58.3%
Abnormality of the nervous system
41.7%
Abnormality of head or neck
33.3%
Abnormality of the ear
33.3%
Abnormality of the cardiovascular system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of limbs
8.3%
Abnormality of metabolism homeostasis
8.3%
Abnormality of the digestive system
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the integument
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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