NM_015180.5:c.19372G>A - CAGS

NM_015180.5:c.19372G>A

HGVS Expressions

NG_011756.1:g.368322G>A
NM_015180.5:c.19372G>A
NP_055995.4:p.Asp6458Asn

Associated Genes

Spectrin Repeat-Containing Nuclear Envelope Protein 2

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Genomic Location

chr14:64216286

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
612999.1	Lebanon	1	Likely Pathogenic	Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Jalkh et al. 2019

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Contributors

Pratibha Nair: 02.11.2020

Edit History

Rahila Mir: 22.02.2022
Pratibha Nair: 02.11.2020

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.