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rs137852340

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852340(A;G)
Make rs137852340(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154546061
GeneG6PD, IKBKG
is asnp
is mentioned by
dbSNPrs137852340
ebirs137852340
HLIrs137852340
Exacrs137852340
Varsomers137852340
Maprs137852340
PheGenIrs137852340
hapmaprs137852340
1000 genomesrs137852340
hgdprs137852340
ensemblrs137852340
gopubmedrs137852340
geneviewrs137852340
scholarrs137852340
googlers137852340
pharmgkbrs137852340
gwascentralrs137852340
openSNPrs137852340
23andMers137852340
23andMe allrs137852340
SNP Nexus

SNPshotrs137852340
SNPdbers137852340
MSV3drs137852340
GWAS Ctlgrs137852340
Max Magnitude0
OMIM305900
Desc
Variant0044
Relatedalso
ClinVar
Risk rs137852340(G;G)
Alt rs137852340(G;G)
Reference Rs137852340(A;A)
Significance Other
Disease G6PD GAOHE
Variation info
Gene IKBKG G6PD
CLNDBN G6PD GAOHE
Reversed 1
HGVS NC_000023.10:g.153774276T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011146.3,

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/