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SLC34A3

Synonyms
HHRH, NPTIIc
External resources
Summary
This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
277
Likely pathogenic
2
VUS
40,956
Likely benign
2,979
Benign
1,400

Patient phenotypes

Proportions of phenotypes among 279 patients carrying pathogenic or likely pathogenic variants on SLC34A3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.8%
Abnormality of the musculoskeletal system
24.4%
Abnormality of the cardiovascular system
19%
Abnormality of the eye
17.2%
Abnormality of head or neck
15.1%
Abnormality of the integument
15.1%
Abnormality of limbs
14%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
11.5%
Abnormality of the digestive system
10%
Growth abnormality
9.3%
Abnormality of the immune system
8.6%
Abnormality of blood and blood-forming tissues
7.5%
Abnormality of the endocrine system
5.4%
Neoplasm
5%
Abnormality of the respiratory system
3.9%
Constitutional symptom
2.9%
Abnormality of prenatal development or birth
1.8%
Abnormality of the voice
1.8%
Abnormality of the breast
1.4%
Abnormal cellular phenotype
1.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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