NM_001011649.3:c.140del - CAGS

NM_001011649.3:c.140del

HGVS Expressions

NG_008999.1:g.16784del
NM_001011649.3:c.140del
NP_001011649.1:p.Val47fs
NC_000009.12:g.120568376del

Associated Genes

CDK5 Regulatory Subunit-Associated Protein 2

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

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
604804.1.1	Saudi Arabia	1	Likely Pathogenic	Microcephaly 3, Primary, Autosomal Recessive	Shaheen et al. 2019
604804.1.2	Saudi Arabia	1	Likely Pathogenic	Microcephaly 3, Primary, Autosomal Recessive	Shaheen et al. 2019	Relative of 604804.1.1

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Contributors

Sayeeda Hana: 11.11.2021

Edit History

Sayeeda Hana: 11.11.2021

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© CAGS 2025. All rights reserved.