NM_001360016.2:c.1311T>C - CAGS

NM_001360016.2:c.1311T>C

HGVS Expressions

NG_009015.2:g.20134T>C
NM_001360016.2:c.1311T>C
NP_001346945.1:p.Tyr437=
NC_000023.11:g.154532439A>G

Associated Genes

Glucose-6-Phosphate Dehydrogenase

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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign, Likely Benign

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
300908.3	Lebanon	1		Likely Benign	Anemia, Nonspherocytic Hemolytic, due to G6PD Deficiency	Kurdi-Haidar et al. 1990
300908.4	Jordan	1		Likely Benign	Anemia, Nonspherocytic Hemolytic, due to G6PD Deficiency	Kurdi-Haidar et al. 1990
300908.5	Oman	1		Likely Benign	Anemia, Nonspherocytic Hemolytic, due to G6PD Deficiency	Kurdi-Haidar et al. 1990
300908.G.4	Oman	19		Benign		Daar et al. 1996	17 patients including 2 homozygous femal...
300908.G.7	Iraq	3		Likely Benign	Anemia, Nonspherocytic Hemolytic, due to G6PD Deficiency	Kurdi-Haidar et al. 1990	Group of 3 Iraqi patients
300908.G.8	Saudi Arabia	9		Likely Benign	Anemia, Nonspherocytic Hemolytic, due to G6PD Deficiency	Kurdi-Haidar et al. 1990	Group of 9 Saudi Arabian patients

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Contributors

Sayeeda Hana: 18.11.2020

Edit History

Pratibha Nair: 10.11.2022
Sayeeda Hana: 28.02.2021
Sayeeda Hana: 18.11.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.