NM_022455.5:c.2058T>A - CAGS

NM_022455.5:c.2058T>A

HGVS Expressions

NG_009821.1:g.82379T>A
NM_022455.5:c.2058T>A
NP_071900.2:p.Tyr686Ter
NC_000005.10:g.177210457T>A

Associated Genes

Nuclear Receptor-Binding Set Domain Protein1

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
117550.3	Saudi Arabia	1	NA	Pathogenic	Sotos Syndrome 1	Maddirevula et al. 2018	De novo mutation

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Contributors

Asha Deepthi: 08.02.2022

Edit History

Asha Deepthi: 08.02.2022

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© CAGS 2025. All rights reserved.