NM_016077.5:c.254A>C - CAGS

NM_016077.5:c.254A>C

HGVS Expressions

NG_042064.1:g.14874A>C
NM_016077.5:c.254A>C
NP_057161.1:p.Gln85Pro
NC_000017.11:g.59697725T>G

Associated Genes

Peptidyl-Trna Hydrolase 2

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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
616263.1.1	Saudi Arabia	2		Pathogenic	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1	Picker-Minh et al. 2016
616263.1.2	Saudi Arabia	2		Pathogenic	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1	Picker-Minh et al. 2016	Brother of 616263.1.1
616263.1.3	Saudi Arabia	2		Pathogenic	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1	Picker-Minh et al. 2016; Alazami et al. 2015	Relative of 616263.1.1
616263.1.4	Saudi Arabia	2		Pathogenic	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1	Picker-Minh et al. 2016	Brother of 616263.1.3, Relative of 61626...
616263.2	Tunisia	2		Pathogenic	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1	Picker-Minh et al. 2016

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Contributors

Pratibha Nair: 22.03.2023

Edit History

Sayeeda Hana: 31.03.2023
Pratibha Nair: 22.03.2023

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.