NM_000104.3:c.1103G>A - CAGS

NM_000104.3:c.1103G>A

HGVS Expressions

NG_008386.2:g.9851G>A
NM_000104.3:c.1103G>A
NP_000095.2:p.Arg368His
NC_000002.12:g.38071251C>T

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1

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Clinvar Clinical Significance

Benign, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
231300.10	Kuwait	1		Likely Pathogenic	Glaucoma 3, Primary Congenital, A	Alfadhli et al. 2006	Good prognosis with surgery
231300.14	Saudi Arabia	1		Likely Pathogenic	Glaucoma 3, Primary Congenital, A	Khan et al. 2011
231300.22	Oman	2		Likely Pathogenic	Glaucoma 3, Primary Congenital, A	El-Gayar et al. 2009
231300.26	Oman	1		Likely Pathogenic	Glaucoma 3, Primary Congenital, A	El-Gayar et al. 2009
231300.29	Oman	2		Likely Pathogenic	Glaucoma 3, Primary Congenital, A	El-Gayar et al. 2009
231300.32	Morocco	1		Likely Pathogenic	Glaucoma 3, Primary Congenital, A	Hilal et al. 2010	No response to surgery and medication
231300.G.7	Saudi Arabia			Likely Pathogenic	Glaucoma 3, Primary Congenital, A	Bejjani et al. 2000	One affected family; non-penetrant

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Contributors

Pratibha Nair: 28.04.2019

Edit History

Pratibha Nair: 22.11.2022
Pratibha Nair: 26.10.2022
Pratibha Nair: 30.04.2019
Pratibha Nair: 29.04.2019
Pratibha Nair: 28.04.2019

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.