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SLC34A1

Synonyms
FRTS2, HCINF2, NAPI-3, NPHLOP1, NPT2, NPTIIa, SLC11, SLC17A2
External resources
Summary
This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants.

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
47
Likely pathogenic
37
VUS
3,041
Likely benign
83
Benign
1,242

Patient phenotypes

Proportions of phenotypes among 84 patients carrying pathogenic or likely pathogenic variants on SLC34A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.3%
Abnormality of the musculoskeletal system
31%
Abnormality of head or neck
23.8%
Abnormality of the cardiovascular system
20.2%
Growth abnormality
19%
Abnormality of the eye
13.1%
Abnormality of the ear
11.9%
Abnormality of limbs
10.7%
Abnormality of the integument
9.5%
Abnormality of blood and blood-forming tissues
6%
Abnormality of the genitourinary system
6%
Abnormality of the immune system
6%
Constitutional symptom
4.8%
Neoplasm
4.8%
Abnormality of the digestive system
3.6%
Abnormality of the endocrine system
3.6%
Abnormality of prenatal development or birth
2.4%
Abnormality of the respiratory system
2.4%
Abnormality of the voice
1.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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