NM_018249.6:c.564_565dup - CAGS

NM_018249.6:c.564_565dup

HGVS Expressions

NG_008999.1:g.48688GA[3]
NM_018249.6:c.564_565dup
NP_060719.4:p.Lys189ArgfsTer15
NC_000009.12:g.120536469TC[3]

Associated Genes

CDK5 Regulatory Subunit-Associated Protein 2

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

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
604804.5.1	Tunisia	2	Pathogenic	Microcephaly 3, Primary, Autosomal Recessive	Ben Ayed et al. 2021	Patient "P3" in the publication (relativ...
604804.5.2	Tunisia	1			Ben Ayed et al. 2021	Mother of 604804.5.1

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Contributors

Asha Deepthi: 08.03.2025

Edit History

Asha Deepthi: 08.03.2025

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© CAGS 2025. All rights reserved.