NM_054012.4:c.286C>A - CAGS

NM_054012.4:c.286C>A

HGVS Expressions

NG_011542.1:g.18806C>A
NM_054012.4:c.286C>A
NP_446464.1:p.Pro96Thr
NC_000009.12:g.130458512C>A

Associated Genes

Argininosuccinate Synthetase 1

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
215700.2.1	Lebanon	2		Pathogenic	Citrullinemia, Classic	Daou et al. 2023
215700.2.2	Lebanon	1				Daou et al. 2023	Father of 215700.2.1
215700.2.3	Lebanon	1				Daou et al. 2023	Mother of 215700.2.1
603470.G.3	Qatar	2	0.009	Pathogenic		Devadoss Gandhi et al. 2024	2 individuals from a study of 14,060 Qat...

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Contributors

Sayeeda Hana: 20.11.2024

Edit History

Sayeeda Hana: 08.01.2025
Sayeeda Hana: 20.11.2024

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.