RHAG Chromosome 6
Rh associated glycoprotein
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What This Gene Does
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]
Gene Info
Gene Group
"Blood group antigens|CD molecules|Solute carrier family 42"
Locus Type
gene with protein product
Location
6p12.3
Ensembl
ENSG00000112077
Associated Conditions (6)
RHAG-related disorder
Rh-null
regulator type
Overhydrated hereditary stomatocytosis
Rh mod blood group phenotype
Rh deficiency syndrome
Key Variants
RS116356543
Conflicting classifications of pathogenicity
RHAG-related disorder, RHAG-related disorder
Health Risk
RS139371066
Conflicting classifications of pathogenicity
Health Risk
RS141051794
Conflicting classifications of pathogenicity
Health Risk
RS200874223
Conflicting classifications of pathogenicity
Health Risk
RS553258732
Conflicting classifications of pathogenicity
Health Risk
RS751577470
Conflicting classifications of pathogenicity
Rh-null, regulator type, Rh-null
Health Risk
RS778934246
Conflicting classifications of pathogenicity
Health Risk
RS906490703
Conflicting classifications of pathogenicity
Health Risk
RS121918587
Likely pathogenic
Rh-null, regulator type, Overhydrated hereditary stomatocytosis
Health Risk
RS2127349270
Likely pathogenic
Health Risk
RS121918586
Pathogenic
Rh mod blood group phenotype, Rh mod blood group phenotype
Health Risk
RS121918589
Pathogenic
Rh-null, regulator type, Rh-null
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116356543 | Health Risk | Conflicting classifications of pathogenicity | RHAG-related disorder, RHAG-related disorder |
| RS139371066 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141051794 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200874223 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS553258732 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751577470 | Health Risk | Conflicting classifications of pathogenicity | Rh-null, regulator type, Rh-null |
| RS778934246 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS906490703 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121918587 | Health Risk | Likely pathogenic | Rh-null, regulator type, Overhydrated hereditary stomatocytosis |
| RS2127349270 | Health Risk | Likely pathogenic | — |
| RS121918586 | Health Risk | Pathogenic | Rh mod blood group phenotype, Rh mod blood group phenotype |
| RS121918589 | Health Risk | Pathogenic | Rh-null, regulator type, Rh-null |
| RS1554174425 | Health Risk | Pathogenic | Overhydrated hereditary stomatocytosis, Overhydrated hereditary stomatocytosis |
| RS1562011389 | Health Risk | Pathogenic | Rh-null, regulator type, Rh-null |
| RS1562012617 | Health Risk | Pathogenic | Rh-null, regulator type, Rh deficiency syndrome |
| RS1562012697 | Health Risk | Pathogenic | Rh-null, regulator type, Rh-null |
| RS1762684181 | Health Risk | Pathogenic | — |
| RS2532602718 | Health Risk | Pathogenic | Rh-null, regulator type, Rh-null |
| RS387906519 | Health Risk | Pathogenic | Rh-null, regulator type, Rh-null |
| RS758951164 | Health Risk | Pathogenic | Rh mod blood group phenotype, Rh mod blood group phenotype |
| RS863225468 | Health Risk | Pathogenic | Overhydrated hereditary stomatocytosis, Overhydrated hereditary stomatocytosis |
| RS863225469 | Health Risk | Pathogenic | Overhydrated hereditary stomatocytosis, Overhydrated hereditary stomatocytosis |
| RS375508949 | Health Risk | Pathogenic/Likely pathogenic | Rh-null, regulator type, RHAG-related disorder |