NM_017950.4:c.850G>C - CAGS

NM_017950.4:c.850G>C

HGVS Expressions

NG_029761.1:g.17125G>C
NM_017950.4:c.850G>C
NP_060420.2:p.Asp284His
NC_000017.11:g.80048756G>C

Associated Genes

Coiled-Coil Domain-Containing Protein 40

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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Uncertain Significance

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
613808.2	United Arab Emirates	1	NA	Likely Pathogenic, Uncertain Significance	Ciliary Dyskinesia, Primary, 15	Alsamri et al. 2021	'Patient 7' in the publication

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Contributors

Asha Deepthi: 30.08.2022

Edit History

Pratibha Nair: 27.12.2022
Pratibha Nair: 22.12.2022
Asha Deepthi: 30.08.2022

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.