NM_000050.4:c.787G>A - CAGS

NM_000050.4:c.787G>A

HGVS Expressions

NG_011542.1:g.40692G>A
NM_000050.4:c.787G>A
NP_000041.2:p.Val263Met
NC_000009.12:g.130480398G>A

Associated Genes

Argininosuccinate Synthetase 1

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

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
603470.1	Qatar	1	0.009	Pathogenic		Devadoss Gandhi et al. 2024	1 individual from a study of 14,060 Qata...
215700.G.2	Jordan		NA	Likely Pathogenic	Citrullinemia, Classic	Al-Jasmi at al. 2016	UAE resident(s) of Jordanian origin. Num...
215700.G.5.1	Lebanon	4+		Pathogenic	Citrullinemia, Classic	Daou et al. 2023	Family with unknown number of affected m...
215700.G.5.2	Lebanon	2				Daou et al. 2023	Father and Mother of 215700.G.5.1
215700.G.7	Lebanon	2+		Pathogenic	Citrullinemia, Classic	Daou et al. 2023	Family with unknown number of affected m...

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Contributors

Asha Deepthi: 10.06.2021

Edit History

Sayeeda Hana: 10.01.2025
Sayeeda Hana: 20.11.2024
Asha Deepthi: 10.06.2021

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.