NM_000263.4:c.934G>A - CAGS

NM_000263.4:c.934G>A

HGVS Expressions

NG_011552.1:g.10187G>A
NM_000263.4:c.934G>A
NP_000254.2:p.Asp312Asn
NC_000017.11:g.42541119G>A

Associated Genes

N-Acetylglucosaminidase, Alpha-

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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

Jordan

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
252920.1.1	Jordan	2		Likely Pathogenic	Mucopolysaccharidosis Type IIIB	Froukh. 2017
252920.1.G.1	Jordan	3		Likely Pathogenic		Froukh. 2017	Parents and and a healthy sibling of 252...
252920.1.G.2	Jordan	2		Likely Pathogenic		Froukh. 2017	Two siblings of 252920.1.1 with epilepsy

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Contributors

Pratibha Nair: 13.09.2023

Edit History

Pratibha Nair: 13.09.2023

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.