NM_014780.5:c.2863-1G>C - CAGS

NM_014780.5:c.2863-1G>C

HGVS Expressions

NG_016205.1:g.13543G>C
NM_014780.5:c.2863-1G>C
NC_000006.12:g.43045403C>G

Associated Genes

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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

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
273750.4.1	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Al-Dosari et al. 2012; Maddirevula et al. 2018
273750.4.2	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Al-Dosari et al. 2012; Maddirevula et al. 2018	Sibling of 273750.4.1
273750.4.3	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Al-Dosari et al. 2012; Maddirevula et al. 2018	Cousin of 273750.4.1
273750.4.4	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Al-Dosari et al. 2012; Maddirevula et al. 2018	Sibling of 273750.4.3
273750.7	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Maddirevula et al. 2018

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Contributors

Asha Deepthi: 10.11.2021

Edit History

Rahila Mir: 14.02.2022
Asha Deepthi: 10.11.2021

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.