NM_000492.4:c.1210-7_1210-6dup - CAGS

NM_000492.4:c.1210-7_1210-6dup

HGVS Expressions

NG_016465.4:g.87851_87852dup
NM_000492.4:c.1210-7_1210-6dup
NC_000007.14:g.117548634_117548635dup

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator

Back to search Result

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Duplication

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
277180.1	Kuwait	1	NA	Uncertain Significance	Vas Deferens, Congenital Bilateral Aplasia of	Lissens et al. 1999
277180.3	Egypt	1	NA	Uncertain Significance	Vas Deferens, Congenital Bilateral Aplasia of	Lissens et al. 1999
277180.4	Egypt	1	NA	Uncertain Significance	Vas Deferens, Congenital Bilateral Aplasia of	Lissens et al. 1999
277180.G.3.4	Egypt	6	NA	Uncertain Significance	Vas Deferens, Congenital Bilateral Aplasia of	Hussein et al. 2011	3 out of 30 patients with CBAVD
277180.G.3.5	Egypt	10	NA	Uncertain Significance	Vas Deferens, Congenital Bilateral Aplasia of	Hussein et al. 2011	10 out of 30 patients with CBAVD
277180.G.3.7	Egypt	6	NA	Uncertain Significance	Vas Deferens, Congenital Bilateral Aplasia of	Hussein et al. 2011	6 out of 30 patients with CBAVD

Download Table

Contributors

Edit History

Asha Deepthi: 17.03.2021
Asha Deepthi: 27.10.2020

Back to search Result

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.