NM_000312.3:c.811C>T - CAGS

NM_000312.3:c.811C>T

HGVS Expressions

NG_016323.1:g.14952C>T
NM_000312.3:c.811C>T
NP_000303.1:p.Arg271Trp
NC_000002.12:g.127428371C>T

Associated Genes

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Search:

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
612304.2.1	Saudi Arabia	2	Pathogenic	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	Alsultan et al. 2016
612304.2.2	Saudi Arabia	2	Pathogenic	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	Alsultan et al. 2016	First cousin of 612304.2.1

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Contributors

Pratibha Nair: 08.04.2020

Edit History

Pratibha Nair: 22.11.2022
Pratibha Nair: 08.04.2020

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.