NM_000317.3:c.342C>G - CAGS

NM_000317.3:c.342C>G

HGVS Expressions

NG_008743.1:g.12095C>G
NM_000317.3:c.342C>G
NP_000308.1:p.Ile114Met
NC_000011.10:g.112233459C>G

Associated Genes

6-Pyruvoyl-Tetrahydropterin Synthase

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Clinvar Clinical Significance

Likely 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
261640.9	Saudi Arabia	2		Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	Almannai et al. 2019
261640.10	Saudi Arabia	2		Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	Almannai et al. 2019
261640.11	Saudi Arabia	2		Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	Almannai et al. 2019
261640.12	Saudi Arabia	2		Likely Pathogenic	Hyperphenylalaninemia, BH4-Deficient, A	Almannai et al. 2019

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Contributors

Pratibha Nair: 21.09.2023

Edit History

Pratibha Nair: 21.09.2023

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.