Home > Gene Browser > SLC34A1

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

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
34
Likely pathogenic
2
VUS
1,575
Likely benign
219
Benign
457

Patient phenotypes

Proportions of phenotypes among 36 patients carring pathogenic or likely pathogenic variants on SLC34A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.1%
Abnormality of the cardiovascular system
33.3%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
22.2%
Abnormality of the ear
11.1%
Constitutional symptom
8.3%
Growth abnormality
8.3%
Abnormality of limbs
5.6%
Abnormality of the eye
5.6%
Abnormality of the genitourinary system
5.6%
Abnormality of the integument
5.6%
Abnormality of blood and blood-forming tissues
2.8%
Abnormality of prenatal development or birth
2.8%
Abnormality of the digestive system
2.8%
Abnormality of the immune system
2.8%
Abnormality of the respiratory system
2.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
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%

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