NM_000336.2:c.1871G>A - CAGS

NM_000336.2:c.1871G>A

HGVS Expressions

NG_011908.1:g.83480G>A
NM_000336.2:c.1871G>A
NP_000327.2:p.Arg624His
NC_000016.10:g.23380749G>A

Associated Genes

Sodium Channel, Epithelial 1, Beta Subunit

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CTGA Clinical Significance

Uncertain Significance

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
211400.3	United Arab Emirates	1	Uncertain Significance	Bronchiectasis with or without Elevated Sweat Chloride 1	Alsamri et al. 2021	Subject exhibiting two heterozygous muta...

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Contributors

Sami Bizzari: 14.06.2022

Edit History

Sami Bizzari: 18.07.2022
Sami Bizzari: 14.06.2022

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.