NM_000312.3:c.1238_1241delCCTG - CAGS

NM_000312.3:c.1238_1241delCCTG

HGVS Expressions

NG_016323.1:g.15379_15382delCCTG
NM_000312.3:c.1238_1241delCCTG

Associated Genes

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Genomic Location

chr2:127428798:127428801

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
612304.1.1	Saudi Arabia	2	Pathogenic	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	Abu-Amero et al. 2003
612304.1.2	Saudi Arabia	1	Pathogenic		Abu-Amero et al. 2003	Mother of 612304.1.1

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Contributors

Pratibha Nair: 08.04.2020

Edit History

Rahila Mir: 17.02.2022
Pratibha Nair: 08.04.2020

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.