NM_000336.2:c.616C>T - CAGS

NM_000336.2:c.616C>T

HGVS Expressions

NG_011908.1:g.58060C>T
NM_000336.2:c.616C>T
NP_000327.2:p.Arg206Trp
NC_000016.10:g.23355329C>T

Associated Genes

Sodium Channel, Epithelial 1, Beta Subunit

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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Epidemiology in the Arab World

United Arab Emirates

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
211400.1	United Arab Emirates	2	Likely Pathogenic	Bronchiectasis with or without Elevated Sweat Chloride 1	Alsamri et al. 2020; Alsamri et al. 2021	Paternal uncles with chronic lung diseas...

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Contributors

Pratibha Nair: 15.02.2022

Edit History

Pratibha Nair: 15.02.2022

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© CAGS 2025. All rights reserved.