NM_014780.5:c.2988G>A - CAGS

NM_014780.5:c.2988G>A

HGVS Expressions

NG_016205.1:g.13669G>A
NM_014780.5:c.2988G>A
NP_055595.2:p.Trp996Ter
NC_000006.12:g.43045277C>T

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

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Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
273750.5.1	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Al-Dosari et al. 2012; Maddirevula et al. 2018
273750.5.2	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Al-Dosari et al. 2012; Maddirevula et al. 2018	Relative of 273750.5.1
273750.9	Saudi Arabia	2		Likely Pathogenic	Three M Syndrome 1	Monies et al. 2019

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Contributors

Asha Deepthi: 10.11.2021

Edit History

Pratibha Nair: 21.11.2023
Asha Deepthi: 10.11.2021

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.