NM_000071.3:c.457G>A - CAGS

NM_000071.3:c.457G>A

HGVS Expressions

NG_008938.1:g.15241G>A
NM_000071.3:c.457G>A
NP_000062.1:p.Gly153Arg
NC_000021.9:g.43065690C>T

Associated Genes

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

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
236200.15.1	Saudi Arabia	2	NA	Likely Pathogenic	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	Zaidi et al. 2012	Patient II-1 from Family 13 in the publi...
236200.15.2	Saudi Arabia	2	NA	Likely Pathogenic	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	Zaidi et al. 2012	Patient II-3 from Family 13 in the publi...
236200.15.3	Saudi Arabia	1	NA			Zaidi et al. 2012	Father of 236200.15.1
236200.15.4	Saudi Arabia	1	NA			Zaidi et al. 2012	Mother of 236200.15.1

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Contributors

Edit History

Pratibha Nair: 08.11.2022
Sami Bizzari: 31.10.2022
Pratibha Nair: 12.10.2022
Asha Deepthi: 07.03.2021
Asha Deepthi: 03.01.2019
Asha Deepthi: 06.12.2018

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.