RHAG

Rh associated glycoprotein

Summary

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]

Known Variants93 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10948516	6:49,574,354	G/T	—	benign
rs200975172	6:49,574,556	A/G	—	likely benign
rs2532588085	6:49,574,569	A/G	—	uncertain significance
rs553258732	6:49,574,608	C/T	—	uncertain significance
rs141051794	6:49,574,626	G/T	—	conflicting classifications of pathogenicity
rs121918589	6:49,574,634	C/A	missense variant	pathogenic
rs2127349270	6:49,574,636	T/C	—	likely pathogenic
rs150091685	6:49,574,641	C/T	—	likely benign
rs371138091	6:49,574,642	G/A	—	likely benign
rs1762486468	6:49,574,889	G/A	—	uncertain significance
rs751577470	6:49,574,893	C/T	—	conflicting classifications of pathogenicity
rs141568382	6:49,574,894	G/A	—	likely benign
rs139371066	6:49,574,900	G/A	—	conflicting classifications of pathogenicity
rs2127349337	6:49,574,907	A/C	—	uncertain significance
rs1327883064	6:49,574,916	G/A	—	uncertain significance
rs375376615	6:49,574,959	A/G	—	uncertain significance
rs1344271231	6:49,578,729	T/C	—	likely benign
rs200874223	6:49,578,734	C/T	—	conflicting classifications of pathogenicity
rs1562012617	6:49,578,736	C/T	—	pathogenic
rs200557191	6:49,578,747	C/T	—	likely benign
rs749005033	6:49,578,786	C/T	—	uncertain significance
rs1319917367	6:49,578,789	C/T	—	uncertain significance
rs1554172605	6:49,578,797	A/G	—	uncertain significance
rs774099520	6:49,578,809	T/C	—	uncertain significance
rs1581937598	6:49,578,814	G/A	—	likely benign
rs1189091693	6:49,578,830	T/C	—	uncertain significance
rs1219021183	6:49,578,846	T/A	—	uncertain significance
rs1562012697	6:49,578,859	C/T	—	pathogenic
rs75364298	6:49,578,876	A/G	—	benign
rs79391332	6:49,578,958	A/G	—	benign
rs76094875	6:49,579,029	G/A	—	benign
rs1409270348	6:49,580,116	G/A	—	uncertain significance
rs758951164	6:49,580,135	G/A	—	pathogenic
rs2532597006	6:49,580,144	C/T	—	uncertain significance
rs2532597036	6:49,580,156	C/T	—	uncertain significance
rs10485291	6:49,580,194	C/T	—	likely benign
rs104893987	6:49,580,217	C/T	missense variant	pathogenic
rs121918587	6:49,580,219	C/T	missense variant	pathogenic
rs1445694173	6:49,580,228	G/C	—	uncertain significance
rs16879498	6:49,580,247	C/T	missense variant	pathogenic
rs377166659	6:49,580,257	C/T	—	likely benign
rs371572879	6:49,580,258	G/A	—	likely benign
rs16879499	6:49,580,483	T/C	—	benign
rs16879500	6:49,580,547	T/C	—	benign
rs1480617	6:49,580,558	G/A	—	benign
rs62412395	6:49,582,120	G/A	—	benign
rs7772767	6:49,582,288	C/T	—	benign
rs760011620	6:49,582,391	G/A	—	likely benign
rs753323291	6:49,582,410	T/C	—	uncertain significance
rs761362339	6:49,582,416	C/T	—	uncertain significance
rs771118052	6:49,582,512	G/A	—	uncertain significance
rs2075714	6:49,582,617	C/T	—	benign
rs906490703	6:49,583,366	G/A	—	conflicting classifications of pathogenicity
rs550840907	6:49,583,405	C/A	—	uncertain significance
rs2532602718	6:49,583,433	C/T	—	pathogenic
rs1229253956	6:49,583,445	C/T	—	uncertain significance
rs1203798220	6:49,583,459	G/A	—	uncertain significance
rs759281201	6:49,583,463	T/C	—	uncertain significance
rs59713879	6:49,585,765	A/G	—	benign
rs1762684181	6:49,585,802	G/T	—	pathogenic
rs2532606875	6:49,585,809	T/C	—	uncertain significance
rs1554174425	6:49,585,826	A/C	—	pathogenic
rs751765811	6:49,585,836	A/G	—	uncertain significance
rs143902633	6:49,585,911	C/T	—	uncertain significance
rs2532607219	6:49,585,921	C/G	—	uncertain significance
rs9473627	6:49,586,632	C/G	—	benign
rs754658834	6:49,586,888	T/C	—	uncertain significance
rs1296946793	6:49,586,904	A/G	—	uncertain significance
rs2532610091	6:49,586,946	A/G	—	uncertain significance
rs755580358	6:49,586,966	C/G	—	uncertain significance
rs139053593	6:49,586,977	C/T	—	uncertain significance
rs121918586	6:49,586,997	C/T	missense variant	pathogenic
rs754429417	6:49,587,020	G/A	—	likely benign
rs149343590	6:49,587,024	G/A	—	uncertain significance
rs1158856928	6:49,587,025	T/G	—	uncertain significance
rs116356543	6:49,587,034	A/G	—	conflicting classifications of pathogenicity
rs863225468	6:49,587,039	A/G	missense variant	pathogenic
rs778934246	6:49,587,046	C/G	—	conflicting classifications of pathogenicity
rs863225469	6:49,587,051	A/C	missense variant	pathogenic
rs2532610683	6:49,587,061	G/A	—	uncertain significance
rs1277820722	6:49,587,065	A/T	—	uncertain significance
rs12524967	6:49,587,227	T/C	—	benign
rs16879538	6:49,587,342	A/G	—	benign
rs16879544	6:49,587,373	A/C	—	benign
rs9357627	6:49,589,773	T/C	intron variant	—
rs375508949	6:49,604,368	C/T	—	pathogenic
rs141969178	6:49,604,381	C/G	—	uncertain significance
rs2127360274	6:49,604,386	A/G	—	uncertain significance
rs1294535938	6:49,604,388	T/C	—	uncertain significance
rs947171285	6:49,604,416	T/C	—	uncertain significance
rs2532634584	6:49,604,424	C/G	—	uncertain significance
rs114042395	6:49,604,443	G/A	—	likely benign
rs121918588	6:49,604,523	C/A	missense variant	pathogenic

Gene information from NCBI Gene. Variant classifications from ClinVar.