NM_001376.4:c.752G>A - CAGS

NM_001376.4:c.752G>A

HGVS Expressions

NG_008777.1:g.20425G>A
NM_001376.4:c.752G>A
NP_001367.2:p.Arg251His
NC_000014.9:g.101979952G>A

Associated Genes

Dynein, Cytoplasmic 1, Heavy Chain 1

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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

United Arab Emirates

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
614228.1	United Arab Emirates	1		Likely Pathogenic	Charcot-Marie-Tooth Disease, Axonal, Type 2O	Saleh et al. 2021	Affected father

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Contributors

Pratibha Nair: 20.09.2021

Edit History

Pratibha Nair: 20.09.2021

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.