rs267606835

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of G6PD deficiency mutation; variable expressivity
(G;G)	1	Likely miscall in LivingDNA data

Reference

GRCh38 38.1/141

Chromosome

X

Position

154535336

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs267606835
dbSNP (classic)	rs267606835
ClinGen	rs267606835
ebi	rs267606835
HLI	rs267606835
Exac	rs267606835
Gnomad	rs267606835
Varsome	rs267606835
LitVar	rs267606835
Map	rs267606835
PheGenI	rs267606835
Biobank	rs267606835
1000 genomes	rs267606835
hgdp	rs267606835
ensembl	rs267606835
geneview	rs267606835
scholar	rs267606835
google	rs267606835
pharmgkb	rs267606835
gwascentral	rs267606835
openSNP	rs267606835
23andMe	rs267606835
SNPshot	rs267606835
SNPdbe	rs267606835
MSV3d	rs267606835
GWAS Ctlg	rs267606835

Max Magnitude

3

rs267606835, also known as c.407C>G, p.Ser136Cys, S136C and also Ser106Cys, is a variant in the G6PD gene, located on the X chromosome.

This variant has 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; the corresponding SNPs are rs267606835, rs267606836 and rs137852330, respectively.

It is not known if the minor alleles of rs267606835 or rs267606836 would be pathogenic on their own (in the absence of these other changes); rs137852330 has been reported as associated with a form of favism.

23andMe name: i5008441

ClinVar
Risk	Rs267606835(G;G) rs267606835(T;T)
Alt	Rs267606835(G;G) rs267606835(T;T)
Reference	Rs267606835(C;C)
Significance	Pathogenic
Disease	Chronic granuloma and hemolytic anemia
Variation	info
Gene	G6PD
CLNDBN	Chronic granuloma and hemolytic anemia
Reversed	1
HGVS	NC_000023.10:g.153763551G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011127.4,