NM_001399.4:c.463C>T - CAGS

NM_001399.4:c.463C>T

HGVS Expressions

NG_009809.2:g.346027C>T
NM_001399.4:c.463C>T
NP_001390.1:p.Arg155Cys
NC_000023.11:g.69957093C>T

Associated Genes

Ectodysplasin A

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
305100.2	Egypt	1		Pathogenic	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Gaczkowska et al. 2016	de novo mutation
305100.3.1	Lebanon	1		Pathogenic	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Tomb et al, 2009
305100.3.2	Lebanon	1		Pathogenic	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Tomb et al, 2009	Sibling of 305100.3.1
305100.3.3	Lebanon	1		Pathogenic	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Tomb et al, 2009	Sibling of 305100.3.1
305100.3.4	Lebanon	1		Pathogenic		Tomb et al, 2009	Mother of 305100.3.1

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Contributors

Pratibha Nair: 07.03.2019

Edit History

Pratibha Nair: 22.11.2022
Pratibha Nair: 07.03.2019

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.