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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

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
85
Likely pathogenic
2
VUS
18,729
Likely benign
2,372
Benign
908

Patient phenotypes

Proportions of phenotypes among 87 patients carring pathogenic or likely pathogenic variants on SLC34A3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.3%
Abnormality of the musculoskeletal system
29.9%
Abnormality of the eye
21.8%
Abnormality of limbs
17.2%
Abnormality of the cardiovascular system
17.2%
Abnormality of head or neck
16.1%
Abnormality of the ear
14.9%
Abnormality of the genitourinary system
13.8%
Abnormality of the digestive system
11.5%
Abnormality of the integument
11.5%
Growth abnormality
9.2%
Constitutional symptom
6.9%
Abnormality of the immune system
5.7%
Abnormality of the voice
4.6%
Neoplasm
4.6%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of prenatal development or birth
3.4%
Abnormality of the endocrine system
3.4%
Abnormality of the respiratory system
3.4%
Abnormality of the breast
2.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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