NM_022455.5:c.1893del - CAGS

NM_022455.5:c.1893del

HGVS Expressions

NG_009821.1:g.82214del
NM_022455.5:c.1893del
NP_071900.2:p.Lys631AsnfsTer22
NC_000005.10:g.177210292del

Associated Genes

Nuclear Receptor-Binding Set Domain Protein1

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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

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
117550.4	Saudi Arabia	1	NA	Likely Pathogenic	Sotos Syndrome 1	Maddirevula et al. 2018	De novo mutation

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Contributors

Asha Deepthi: 08.02.2022

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Asha Deepthi: 08.02.2022

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© CAGS 2025. All rights reserved.