|(C;C)||0||common in clinvar|
|(C;T)||3||Carrier of G6PD deficiency mutation; variable expressivity|
Known as G6PD Coimbra and also as Arg198Cys or R198C, rs137852330 represents a variant in the G6PD gene, located on the X chromosome. On its own, the minor allele of this SNP has been reported to be similar to G6PD Mediterranean, in a patient who exhibited favism (i.e. hemolytic anemia after a specific trigger, such as aspirin or eating fava beans), according to citations in OMIM.
This variant has also been described as one of three variants defining a unique null G6PD allele in a patient with chronic granuloma and hemolytic anemia. The three changes defining this allele were c.317C>G, c.544C>T, and c.592C>T, leading to protein changes Ser106Cys, Arg182Trp and Arg198Cys, represented by SNPs rs267606835, rs267606836 and rs137852330, respectively. It is not known if these other changes would be pathogenic on their own.
23andMe name: i5008440
|Disease||G6PD COIMBRA Chronic granuloma and hemolytic anemia|
|CLNDBN||G6PD COIMBRA Chronic granuloma and hemolytic anemia|
|CLNSRC||OMIM Allelic Variant|