NM_181882.2:c.1090C>T - CAGS

NM_181882.2:c.1090C>T

HGVS Expressions

NG_007979.1:g.21103C>T
NM_181882.2:c.1090C>T
NP_870998.2:p.Arg364Ter
NC_000019.10:g.40397262G>A

Associated Genes

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, 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
145900.1	United Arab Emirates	2		Pathogenic	Hypertrophic Neuropathy of Dejerine-Sottas	Al-Shamsi et al. 2016
145900.2	United Arab Emirates	2		Likely Pathogenic	Hypertrophic Neuropathy of Dejerine-Sottas	Mu et al. 2019
614895.1.1	Algeria	2		Pathogenic	Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Nouioua et al. 2011
614895.1.2	Algeria	2		Pathogenic	Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Nouioua et al. 2011	Brother of 614895.1.1
614895.1.3	Algeria	2		Pathogenic	Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Nouioua et al. 2011	Brother of 614895.1.1
614895.1.4	Algeria	2		Pathogenic	Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Nouioua et al. 2011	Sister of 614895.1.1
614895.1.5	Algeria	1		Pathogenic		Nouioua et al. 2011	Unaffected father of 614895.1.1
614895.1.6	Algeria	1		Pathogenic		Nouioua et al. 2011	Unaffected brother of 614895.1.1

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Contributors

Sayeeda Hana: 08.01.2020

Edit History

Pratibha Nair: 04.01.2024
Pratibha Nair: 21.11.2022
Rahila Mir: 14.02.2022
Sayeeda Hana: 08.01.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.