NM_000481.4:c.922A>T - CAGS

NM_000481.4:c.922A>T

HGVS Expressions

NG_015986.1:g.9750A>T
NM_000481.4:c.922A>T
NP_000472.2:p.Ile308Phe
NC_000003.12:g.49417929T>A

Associated Genes

Aminomethyltransferase

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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
209850.2.1	Saudi Arabia	2	Likely Pathogenic	Autism	Yu et al. 2013
209850.2.2	Saudi Arabia	2	Likely Pathogenic	Autism	Yu et al. 2013	Sibling of 209850.2.1
209850.2.3	Saudi Arabia	1	Likely Pathogenic		Yu et al. 2013	Mother of 209850.2.1
209850.2.4	Saudi Arabia	1	Likely Pathogenic		Yu et al. 2013	Father of 209850.2.1

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Contributors

Pratibha Nair: 12.07.2022

Edit History

Pratibha Nair: 12.07.2022

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© CAGS 2025. All rights reserved.