NM_000336.2:c.1402G>A - CAGS

NM_000336.2:c.1402G>A

HGVS Expressions

NG_011908.1:g.80115G>A
NM_000336.2:c.1402G>A
NP_000327.2:p.Glu468Lys
NC_000016.10:g.23377384G>A

Associated Genes

Sodium Channel, Epithelial 1, Beta Subunit

Back to search Result

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Epidemiology in the Arab World

United Arab Emirates

Show entries

Search:

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
211400.2	United Arab Emirates	1	Likely Pathogenic	Bronchiectasis with or without Elevated Sweat Chloride 1	Alsamri et al. 2021

Download Table

Contributors

Sami Bizzari: 14.06.2022

Edit History

Sami Bizzari: 18.07.2022
Sami Bizzari: 14.06.2022

Back to search Result

© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.