NM_001168370.2:c.203G>A - CAGS

NM_001168370.2:c.203G>A

HGVS Expressions

NG_016205.1:g.6360G>A
NM_001168370.2:c.203G>A
NP_001161842.2:p.Trp68Ter

Associated Genes

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Genomic Location

chr6:43052586

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
273750.1.1	Jordan	2	Pathogenic	Three M Syndrome 1	Akawi et al. 2011
273750.1.2	Jordan	2	Pathogenic	Three M Syndrome 1	Akawi et al. 2011	Sibling of 273750.1.1
273750.1.3	Jordan	2	Pathogenic	Three M Syndrome 1	Akawi et al. 2011	Sibling of 273750.1.1
273750.1.4	Jordan	2	Pathogenic	Three M Syndrome 1	Akawi et al. 2011	Paternal first cousin of 273750.1.3
273750.1.5	Jordan	1	Pathogenic		Akawi et al. 2011	Mother of 273750.1.1
273750.1.6	Jordan	1	Pathogenic		Akawi et al. 2011	Father of 273750.1.1

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Contributors

Pratibha Nair: 28.07.2020

Edit History

Rahila Mir: 17.02.2022
Pratibha Nair: 28.07.2020

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.