NM_000312.3:c.1198G>A - CAGS

NM_000312.3:c.1198G>A

HGVS Expressions

NG_016323.1:g.15339G>A
NM_000312.3:c.1198G>A
NP_000303.1:p.Gly400Ser
NC_000002.12:g.127428758G>A

Associated Genes

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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Epidemiology in the Arab World

United Arab Emirates

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
612304.5.1	United Arab Emirates	2	Likely Pathogenic	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	Boucher et al. 2018	Received a liver transplant from his het...
612304.5.2	United Arab Emirates	1			Boucher et al. 2018	Father of 612304.5.1
612304.5.3	United Arab Emirates	1			Boucher et al. 2018	Mother of 612304.5.1
612304.5.4	United Arab Emirates	1			Boucher et al. 2018	Maternal aunt (and liver donor) of 61230...
612304.6.1	United Arab Emirates	2	Likely Pathogenic	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	Al Harbi et al. 2017
612304.6.2	United Arab Emirates	1			Al Harbi et al. 2017	Father of 612304.6.1
612304.6.3	United Arab Emirates	1			Al Harbi et al. 2017	Mother of 612304.6.1

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Contributors

Sayeeda Hana: 23.10.2021

Edit History

Pratibha Nair: 02.01.2023
Sayeeda Hana: 22.02.2022
Sayeeda Hana: 17.02.2022
Rahila Mir: 09.02.2022
Sayeeda Hana: 23.10.2021

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.