NM_182961.4:c.7532A>T - CAGS

NM_182961.4:c.7532A>T

HGVS Expressions

NG_012855.2:g.245601A>T
NM_182961.4:c.7532A>T
NP_892006.3:p.Gln2511Leu
NC_000006.12:g.152396799T>A

Associated Genes

Spectrin Repeat-Containing Nuclear Envelope Protein 1

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CTGA Clinical Significance

Uncertain Significance

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
612998.1	Saudi Arabia	2	Uncertain Significance	Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Monies et al. 2017

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Contributors

Asha Deepthi: 24.02.2025

Edit History

Asha Deepthi: 24.02.2025

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© CAGS 2025. All rights reserved.