NM_016648.4:c.503_504dup - CAGS

NM_016648.4:c.503_504dup

HGVS Expressions

NG_032779.1:g.14943_14944dup
NM_016648.4:c.503_504dup
NP_057732.2:p.Ala169LeufsTer37
NC_000004.12:g.112646906_112646907dup

Associated Genes

La Ribonucleoprotein 7, Transcriptional Regulator

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
615071.3.1	Algeria	2	Likely Pathogenic	Alazami Syndrome	Imbert-Bouteille et al. 2019
615071.3.2	Algeria	2	Likely Pathogenic	Alazami Syndrome	Imbert-Bouteille et al. 2019	Sibling of 615071.3.1

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Contributors

Pratibha Nair: 19.09.2022

Edit History

Pratibha Nair: 19.09.2022

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© CAGS 2025. All rights reserved.