rs137852330

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of G6PD deficiency mutation; variable expressivity
(T;T)	5	G6PD deficiency

Reference

GRCh38 38.1/141

Chromosome

X

Position

154534390

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs137852330
dbSNP (classic)	rs137852330
ClinGen	rs137852330
ebi	rs137852330
HLI	rs137852330
Exac	rs137852330
Gnomad	rs137852330
Varsome	rs137852330
LitVar	rs137852330
Map	rs137852330
PheGenI	rs137852330
Biobank	rs137852330
1000 genomes	rs137852330
hgdp	rs137852330
ensembl	rs137852330
geneview	rs137852330
scholar	rs137852330
google	rs137852330
pharmgkb	rs137852330
gwascentral	rs137852330
openSNP	rs137852330
23andMe	rs137852330
SNPshot	rs137852330
SNPdbe	rs137852330
MSV3d	rs137852330
GWAS Ctlg	rs137852330

Max Magnitude

5

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

OMIM	305900
Desc
Variant	0031
Related	also

ClinVar
Risk	Rs137852330(T;T)
Alt	Rs137852330(T;T)
Reference	Rs137852330(C;C)
Significance	Other
Disease	G6PD COIMBRA Chronic granuloma and hemolytic anemia
Variation	info
Gene	G6PD
CLNDBN	G6PD COIMBRA Chronic granuloma and hemolytic anemia
Reversed	1
HGVS	NC_000023.10:g.153762605G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011126.1, RCV000011127.4,