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NIPA2

Synonyms
SLC57A2
External resources
Summary
This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.

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
0
Likely pathogenic
0
VUS
3,436
Likely benign
770
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NIPA2 gene.

Phenotype class
Patients in 3billion (%)

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