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SLC34A2

Synonyms
NAPI-3B, NAPI-IIb, NPTIIb, PULAM
External resources
Summary
The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms 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
11
Likely pathogenic
0
VUS
2,339
Likely benign
6,645
Benign
31

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on SLC34A2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
30%
Abnormality of the musculoskeletal system
30%
Abnormality of the nervous system
20%
Abnormality of head or neck
10%
Abnormality of the digestive system
10%
Abnormality of the ear
10%
Abnormality of the immune system
10%
Abnormality of the integument
10%
Growth abnormality
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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