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CHP1

Synonyms
CHP, SLC9A1BP, SPAX9, Sid470p, p22, p24
External resources
Summary
This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity.

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
0
Likely pathogenic
0
VUS
2,074
Likely benign
736
Benign
513

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CHP1 gene.

Phenotype class
Patients in 3billion (%)

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