Home > Gene Browser > SLC26A3

SLC26A3

Synonyms
CLD, DRA
External resources
Summary
The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea.

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
31
Likely pathogenic
0
VUS
3,219
Likely benign
1,877
Benign
1,449

Patient Phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on SLC26A3 gene are displayed below. The following symptoms were found in patients with a variant in SLC26A3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.7%
Abnormality of the ear
29%
Abnormality of head or neck
25.8%
Abnormality of the musculoskeletal system
25.8%
Abnormality of the digestive system
19.4%
Abnormality of metabolism homeostasis
16.1%
Abnormality of the eye
16.1%
Growth abnormality
16.1%
Abnormality of the cardiovascular system
12.9%
Abnormality of the immune system
12.9%
Abnormality of blood and blood forming tissues
6.5%
Abnormality of limbs
6.5%
Abnormality of prenatal development or birth
6.5%
Abnormality of the genitourinary system
6.5%
Abnormality of the respiratory system
6.5%
Abnormality of the integument
3.2%
Constitutional symptom
3.2%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

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