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AMY1C

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.

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
37
Likely pathogenic
301
VUS
804
Likely benign
292
Benign
0

Patient Phenotypes

Proportions of phenotypes among 335 patients carrying pathogenic or likely pathogenic variants on AMY1C gene are displayed below. The following symptoms were found in patients with a variant in AMY1C. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
45.7%
Abnormality of the nervous system
35.5%
Abnormality of the musculoskeletal system
24.8%
Abnormality of head or neck
16.1%
Growth abnormality
11%
Abnormality of the integument
10.1%
Abnormality of limbs
9.6%
Abnormality of the cardiovascular system
9%
Abnormality of metabolism homeostasis
8.4%
Abnormality of the ear
7.8%
Abnormality of the genitourinary system
7.2%
Abnormality of the immune system
7.2%
Abnormality of the digestive system
6.9%
Abnormality of the endocrine system
4.5%
Neoplasm
4.5%
Constitutional symptom
3.3%
Abnormality of blood and blood forming tissues
3%
Abnormality of the respiratory system
2.1%
Abnormal cellular phenotype
1.5%
Abnormality of prenatal development or birth
0.6%
Abnormality of the voice
0.6%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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