| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common in clinvar
|
| (A;G)
|
3
|
Carrier of G6PD deficiency mutation; variable expressivity
|
| (G;G)
|
5
|
G6PD deficiency
|
According to OMIM
http://omim.org/entry/305900
.0044 G6PD GAOHE
G6PD, HIS32ARG dbSNP:rs137852340 RCV000011146
This G6PD variant was described by Du et al. (1985). Its biochemical characterization was reviewed by Chiu et al. (1993), who demonstrated that the mutant is frequent in Chinese and consists of a change in cDNA nucleotide 95 from A to G (his to arg).
rs137852340 aka A95G mutation is on exon 2 （Numbering of the human G6PD gene sequence is from the GeneBank accession no. X55448.）
According to ExAct database
G is a rare mutation with frequency of 0.014% (12 / 87485);
Five common mutations, namely A95G, G871A, C1024T,
G1376T, and G1388A, with a minimum frequency of 5%,
for each, accounted for approximately 80% of all G6PD
mutations among Chinese Han, e.g.
8.8% A95G among Shanghai G6PD deficiency samples (1).
References:
1. Rapid and Reliable Detection of Glucose-6-Phosphate Dehydrogenase (G6PD) Gene Mutations in Han Chinese Using High-Resolution Melting Analysis
Jing-bin Yan,*† Hong-ping Xu,‡ Can Xiong,*† Zhao-rui Ren,*† Guo-li Tian,‡ Fanyi Zeng,*†§* and Shu-zhen Huang
J Mol Diagn. 2010 May; 12(3): 305–311.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860466/
23andMe name: i5008452
