NM_000048.4:c.556C>T - CAGS

NM_000048.4:c.556C>T

HGVS Expressions

NG_009288.1:g.15987C>T
NM_000048.4:c.556C>T
NP_000039.2:p.Arg186Trp
NC_000007.14:g.66086775C>T

Associated Genes

Argininosuccinate Lyase

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Clinvar Clinical Significance

Benign, Likely Benign, Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Saudi Arabia

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
207900.1	Saudi Arabia	1	NA	Likely Pathogenic	Argininosuccinic Aciduria	Imtiaz et al. 2010	Compound heterozygous patient
207900.G.1.2	Saudi Arabia	16	NA	Likely Pathogenic	Argininosuccinic Aciduria	Imtiaz et al. 2010	Group of 8 patients

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Contributors

Edit History

Precise Support: 08.11.2022
Sami Bizzari: 12.09.2022
Asha Deepthi: 04.03.2021
Asha Deepthi: 21.02.2019

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.