Home > Gene Browser > AMY1B

AMY1B

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
35
Likely pathogenic
0
VUS
259
Likely benign
0
Benign
0

Patient Phenotypes

Proportions of phenotypes among 35 patients carrying pathogenic or likely pathogenic variants on AMY1B gene are displayed below. The following symptoms were found in patients with a variant in AMY1B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
31.4%
Abnormality of the nervous system
31.4%
Abnormality of metabolism homeostasis
20%
Abnormality of the cardiovascular system
17.1%
Growth abnormality
17.1%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of the ear
11.4%
Abnormality of the endocrine system
11.4%
Abnormality of the eye
11.4%
Abnormality of the genitourinary system
11.4%
Abnormality of blood and blood forming tissues
8.6%
Abnormality of the digestive system
8.6%
Abnormality of the integument
5.7%
Neoplasm
5.7%
Abnormality of prenatal development or birth
2.9%
Abnormality of the immune system
2.9%
Abnormality of the respiratory system
2.9%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.