rs121918588

This is a variant in the RHAG gene that changes a methionine to an isoleucine.

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ClinVar annotation

Pathogenic
2 submitters2 publications

Rh mod blood group phenotype (RH-MOD)

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About RHAG

The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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