NM_001382.4:c.729-4A>C - CAGS

NM_001382.4:c.729-4A>C

HGVS Expressions

NG_008918.1:g.9029A>C
NM_001382.4:c.729-4A>C
NP_001373.2:p.?
NC_000011.10:g.119098047T>G

Associated Genes

Dolichyl-Phosphate N-Acetylglucosamine Phosphotransferase

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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
608093.1	Saudi Arabia	1	Uncertain Significance	Congenital Disorder of Glycosylation, Type Ij	Monies et al. 2017

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Contributors

Asha Deepthi: 18.03.2025

Edit History

Asha Deepthi: 18.03.2025

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© CAGS 2025. All rights reserved.