NM_000312.3:c.796+3A>T - CAGS

NM_000312.3:c.796+3A>T

HGVS Expressions

NG_016323.1:g.13806A>T
NM_000312.3:c.796+3A>T

Associated Genes

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Genomic Location

chr2:127427225

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
612304.3.1	Saudi Arabia	2	Pathogenic	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	Al-Hamed et al. 2016
612304.3.2	Saudi Arabia	1	Pathogenic		Al-Hamed et al. 2016	Father of 612304.3.1
612304.3.3	Saudi Arabia	1	Pathogenic		Al-Hamed et al. 2016	Mother of 612304.3.1
612304.3.4	Saudi Arabia	1	Pathogenic		Al-Hamed et al. 2016	Sister of 612304.3.1

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Contributors

Pratibha Nair: 08.04.2020

Edit History

Rahila Mir: 14.02.2022
Pratibha Nair: 08.04.2020

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.