NM_000257.4:c.1357C>T - CAGS

NM_000257.4:c.1357C>T

HGVS Expressions

NG_007884.1:g.11657C>T
NM_000257.4:c.1357C>T
NP_000248.2:p.Arg453Cys
NC_000014.9:g.23429005G>A

Associated Genes

Myosin, Heavy Chain 7, Cardiac Muscle, Beta

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Lebanon

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
192600.2.1	Lebanon			Pathogenic	Cardiomyopathy, Familial Hypertrophic, 1	Refaat et al. 2016	Proband
192600.2.2	Lebanon			Pathogenic	Cardiomyopathy, Familial Hypertrophic, 1	Refaat et al. 2016	Mother of 192600.2.1
192600.2.3	Lebanon			Likely Pathogenic	Cardiomyopathy, Familial Hypertrophic, 1	Refaat et al. 2016	Son of 192600.2.1
192600.2.4	Lebanon			Likely Pathogenic	Cardiomyopathy, Familial Hypertrophic, 1	Refaat et al. 2016	Daughter of 192600.2.1

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Contributors

Asha Deepthi: 24.02.2021

Edit History

Asha Deepthi: 24.02.2021

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.