NM_000104.3:c.1120G>A - CAGS

NM_000104.3:c.1120G>A

HGVS Expressions

NG_008386.2:g.9868G>A
NM_000104.3:c.1120G>A
NP_000095.2:p.Asp374Asn
NC_000002.12:g.38071234C>T

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1

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Clinvar Clinical Significance

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
231300.23	Oman	2		Likely Pathogenic	Glaucoma 3, Primary Congenital, A	El-Gayar et al. 2009
231300.27	Oman	2		Likely Pathogenic	Glaucoma 3, Primary Congenital, A	El-Gayar et al. 2009
231300.G.3	Saudi Arabia			Likely Pathogenic	Glaucoma 3, Primary Congenital, A	Bejjani et al. 2000	Group of 2 families with PCG; both non-p...
231300.G.6	Saudi Arabia			Likely Pathogenic	Glaucoma 3, Primary Congenital, A	Bejjani et al. 2000	Group of 3 families with PCG

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Contributors

Pratibha Nair: 28.04.2019

Edit History

Pratibha Nair: 22.11.2022
Pratibha Nair: 29.04.2019
Pratibha Nair: 28.04.2019

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.