NM_002296.4:c.1535G>A - CAGS

NM_002296.4:c.1535G>A

HGVS Expressions

NG_008099.1:g.29163G>A
NM_002296.4:c.1535G>A
NP_002287.2:p.Arg512Gln
NC_000001.11:g.225404655C>T

Associated Genes

Lamin B Receptor

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Saudi Arabia

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
618019.1	Saudi Arabia	2		Likely Pathogenic	Rhizomelic Skeletal Dysplasia with or without Pelger-Huet Anomaly	Monies et al. 2017
618019.2	Saudi Arabia	2		Likely Pathogenic	Rhizomelic Skeletal Dysplasia with or without Pelger-Huet Anomaly	Monies et al. 2017
618019.3	Saudi Arabia	2		Uncertain Significance	Rhizomelic Skeletal Dysplasia with or without Pelger-Huet Anomaly	Monies et al. 2017

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Contributors

Asha Deepthi: 30.10.2024

Edit History

Asha Deepthi: 30.10.2024

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.