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

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

HGVS Expressions

NG_016465.4:g.87851_87852del
NM_000492.4:c.1210-7_1210-6del
NC_000007.14:g.117548634_117548635del

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator

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Clinvar Clinical Significance

Pathogenic, Risk factor, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
277180.4	Egypt	1	NA	Likely Pathogenic	Vas Deferens, Congenital Bilateral Aplasia of	Lissens et al. 1999
277180.G.1.2	Kuwait			Likely Pathogenic	Vas Deferens, Congenital Bilateral Aplasia of	Samilchuk, 2005	Unknown number of patients with CBAVD
277180.G.2.3	Egypt	10	NA	Likely Pathogenic	Vas Deferens, Congenital Bilateral Aplasia of	Lissens et al. 1999	5 patients with CBAVD
277180.G.2.4	Egypt	3	NA	Likely Pathogenic	Vas Deferens, Congenital Bilateral Aplasia of	Lissens et al. 1999	3 patients with CBAVD
277180.G.3.3	Egypt	4	NA	Likely Pathogenic	Vas Deferens, Congenital Bilateral Aplasia of	Hussein et al. 2011	2 out of 30 patients with CBAVD
277180.G.3.6	Egypt	6	NA	Likely Pathogenic	Vas Deferens, Congenital Bilateral Aplasia of	Hussein et al. 2011	6 out of 30 patients with CBAVD
277180.G.3.7	Egypt	6	NA	Likely Pathogenic	Vas Deferens, Congenital Bilateral Aplasia of	Hussein et al. 2011	6 out of 30 patients with CBAVD

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Contributors

Edit History

Asha Deepthi: 17.03.2021
Asha Deepthi: 27.10.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.