NM_000527.5:c.979C>T - CAGS

NM_000527.5:c.979C>T

HGVS Expressions

NG_009060.1:g.26310C>T
NM_000527.5:c.979C>T
NP_000518.1:p.His327Tyr
NC_000019.10:g.11110690C>T

Associated Genes

Low Density Lipoprotein Receptor

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Clinvar Clinical Significance

Likely Benign, Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

United Arab Emirates

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
143890.59	United Arab Emirates	1	NA	Likely Pathogenic	Hypercholesterolemia, Familial, 1	Rimbert et al. 2021	'Patient 391' in the publication

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Contributors

Asha Deepthi: 17.05.2022

Edit History

Asha Deepthi: 17.05.2022

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.