[Table, Nomenclature for Selected G6PD Variants]. - Medical Genetics Summaries

Common allele name / condition	Alternative names / condition	HGVS reference sequence	WHO Classification*	dbSNP reference identifier for allele location
G6PD B	WT	NM_001042351.3	NP_001035810.1	IV/ Normal	--
G6PD A+	p.Asn126Asp	NM_001042351.3 :c.376A>G	NP_001035810.1:p.Asn126Asp	IV/ Normal	rs1050828
G6PD Sao Boria	p.Asp113Asn	NM_001042351.3:c.337G>A	NP_001035810.1:p.Asp113Asn	IV/ Normal	rs5030870
G6PD A-	A-^202A/376G	NM_001042351.3 :c.376A>G	NP_001035810.1:p.Asn126Asp	III/ Deficient	rs1050828 rs1050829
NM_001042351.3:c.202G>A	NP_001035810.1:p.Val68Met
G6PD A-	A-^680T/376G	NM_001042351.3 :c.376A>G	NP_001035810.1:p.Asn126Asp	III/ Deficient	rs1050828 rs137852328
NM_001042351.3: c.680G>T	NP_001035810.1:p.Arg227Leu
G6PD A-	A-^968C/376G	NM_001042351.3 :c.376A>G	NP_001035810.1:p.Asn126Asp	III/ Deficient	rs1050828 rs76723693
NM_001042351.3:c.968T>C	NP_001035810.1:p.Leu323Pro
G6PD Bangkok	p.Lys275Asn	NM_001042351.3:c.202G>A	NP_001035810.1:p.Val68Met	III/ Deficient
G6PD Kalyan-Kerala	p.Glu317Lys	NM_001042351.3:c.949G>A	NP_001035810.1:p.Glu317Lys	III/ Deficient	rs137852339
G6PD Orissa	p.Ala44Gly	NM_001042351.3:c.131C>G	NP_001035810.1:p.Ala44Gly	III/ Deficient	rs78478128
GP6D Canton	p.Arg459Leu	NM_001042351.3: c.1376G>T	NP_001035810.1:p.Arg459Leu	II/ Deficient	rs72554665
G6PD Chatham	p.Ala335Thr	NM_001042351.3:c.1003G>A	NP_001035810.1:p.Ala335Thr	II/ Deficient	rs5030869
G6PD Mediterranean	p.Ser188Phe	NM_001042351.3:c.563C>T	NP_001035810.1:pSer188Phe	II/ Deficient	rs5030868
G6PD Viangchan	p.Val291Met	NM_001042351.3:c.871G>A	NP_001035810.1:p.Val291Met	II/ Deficient	rs137852327
G6PD Villeurbanne	p.Thr334del	NM_001042351.3:c.1000_1002delACC	NP_001035810.1:pThr334del	I/Deficient with CNSHA

Common allele name / condition

Alternative names / condition

HGVS reference sequence

WHO Classification*

dbSNP reference identifier for allele location

Coding

Protein

G6PD B

NM_001042351.3

NP_001035810.1

IV/ Normal

G6PD A+

p.Asn126Asp

NM_001042351.3 :c.376A>G

NP_001035810.1:p.Asn126Asp

IV/ Normal

rs1050828

G6PD Sao Boria

p.Asp113Asn

NM_001042351.3:c.337G>A

NP_001035810.1:p.Asp113Asn

IV/ Normal

rs5030870

G6PD A-

A-^202A/376G

NM_001042351.3 :c.376A>G

NP_001035810.1:p.Asn126Asp

III/ Deficient

rs1050828 rs1050829

NM_001042351.3:c.202G>A

NP_001035810.1:p.Val68Met

G6PD A-

A-^680T/376G

NM_001042351.3 :c.376A>G

NP_001035810.1:p.Asn126Asp

III/ Deficient

rs1050828 rs137852328

NM_001042351.3: c.680G>T

NP_001035810.1:p.Arg227Leu

G6PD A-

A-^968C/376G

NM_001042351.3 :c.376A>G

NP_001035810.1:p.Asn126Asp

III/ Deficient

rs1050828 rs76723693

NM_001042351.3:c.968T>C

NP_001035810.1:p.Leu323Pro

G6PD Bangkok

p.Lys275Asn

NM_001042351.3:c.202G>A

NP_001035810.1:p.Val68Met

III/ Deficient

G6PD Kalyan-Kerala

p.Glu317Lys

NM_001042351.3:c.949G>A

NP_001035810.1:p.Glu317Lys

III/ Deficient

rs137852339

G6PD Orissa

p.Ala44Gly

NM_001042351.3:c.131C>G

NP_001035810.1:p.Ala44Gly

III/ Deficient

rs78478128

GP6D Canton

p.Arg459Leu

NM_001042351.3: c.1376G>T

NP_001035810.1:p.Arg459Leu

II/ Deficient

rs72554665

G6PD Chatham

p.Ala335Thr

NM_001042351.3:c.1003G>A

NP_001035810.1:p.Ala335Thr

II/ Deficient

rs5030869

G6PD Mediterranean

p.Ser188Phe

NM_001042351.3:c.563C>T

NP_001035810.1:pSer188Phe

II/ Deficient

rs5030868

G6PD Viangchan

p.Val291Met

NM_001042351.3:c.871G>A

NP_001035810.1:p.Val291Met

II/ Deficient

rs137852327

G6PD Villeurbanne

p.Thr334del

NM_001042351.3:c.1000_1002delACC

NP_001035810.1:pThr334del

I/Deficient with CNSHA

From: Rasburicase Therapy and G6PD and CYB5R Genotype

Medical Genetics Summaries [Internet].

Pratt VM, Scott SA, Pirmohamed M, et al., editors.

Bethesda (MD): National Center for Biotechnology Information (US); 2012-.

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